ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	PAFAH1B1
Previous Symbol	MDCR, MDS
Symbol Alias	LIS1, PAFAH
Approved Name	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Previous Name	"platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"
Location	17p13.3
Position	chr17:2496504-2588909, 1
External Links	HGNC: 8574 Entrez Gene: 5048 Ensembl: ENSG00000007168 UCSC: uc002fuw.4
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 70)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0000226	microtubule cytoskeleton organization	biological process	ISS[10729324]	16

GO terms by database search (count: 69)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005871	kinesin complex	cellular component	IEA	5
GO:0008344	adult locomotory behavior	biological process	IMP[9063735]	13
GO:0033267	axon part	cellular component	IEA	2
GO:0031023	microtubule organizing center organization	biological process	IMP[11163258]	3
GO:0030036	actin cytoskeleton organization	biological process	ISS[10729324]	23
GO:0031982	vesicle	cellular component	IEA	6
GO:0007268	synaptic transmission	biological process	ISS[10729324]	103
GO:0048471	perinuclear region of cytoplasm	cellular component	ISS	99
GO:0021987	cerebral cortex development	biological process	IMP[9063735]	11
GO:0032319	regulation of Rho GTPase activity	biological process	ISS[10729324]	1
GO:0008017	microtubule binding	molecular function	ISS[10729324]	34
GO:0050885	neuromuscular process controlling balance	biological process	IMP[9063735]	7
GO:0045773	positive regulation of axon extension	biological process	IEA	9
GO:0001961	positive regulation of cytokine-mediated signaling pathway	biological process	IEA	1
GO:0000132	establishment of mitotic spindle orientation	biological process	IMP[11056532]	7
GO:0007017	microtubule-based process	biological process	IDA[11940666]	4
GO:0005730	nucleolus	cellular component	IDA	271
GO:0001675	acrosome assembly	biological process	ISS	3
GO:0000235	astral microtubule	cellular component	IDA[11940666]	1
GO:0000776	kinetochore	cellular component	IDA[11940666]	19
GO:0000087	M phase of mitotic cell cycle	biological process	TAS	21
GO:0031513	nonmotile primary cilium	cellular component	ISS	2
GO:0030426	growth cone	cellular component	IEA	23
GO:0021819	layer formation in cerebral cortex	biological process	ISS	2
GO:0045931	positive regulation of mitotic cell cycle	biological process	IEA	5
GO:0047496	vesicle transport along microtubule	biological process	ISS[10729324]	2
GO:0009306	protein secretion	biological process	IEA	3
GO:0031512	motile primary cilium	cellular component	ISS	5
GO:0042803	protein homodimerization activity	molecular function	ISS	128
GO:0019226	transmission of nerve impulse	biological process	ISS[10729324]	3
GO:0021540	corpus callosum morphogenesis	biological process	IMP[9063735]	2
GO:0016042	lipid catabolic process	biological process	IEA	32
GO:0005829	cytosol	cellular component	ISS[8028668]; TAS	485
GO:0045505	dynein intermediate chain binding	molecular function	IEA	1
GO:0000278	mitotic cell cycle	biological process	TAS	66
GO:0005635	nuclear envelope	cellular component	IDA[11940666]	22
GO:0000236	mitotic prometaphase	biological process	TAS	19
GO:0046469	platelet activating factor metabolic process	biological process	ISS[8028668]	1
GO:0031252	cell leading edge	cellular component	ISS	4
GO:0017145	stem cell division	biological process	IEA	1
GO:0005938	cell cortex	cellular component	IDA[11940666]	29
GO:0046329	negative regulation of JNK cascade	biological process	IEA	5
GO:0036035	osteoclast development	biological process	IEA	1
GO:0045502	dynein binding	molecular function	IDA[11889140]	6
GO:0001667	ameboidal cell migration	biological process	IEA	3
GO:0051219	phosphoprotein binding	molecular function	ISS	4
GO:0021766	hippocampus development	biological process	ISS	8
GO:0005813	centrosome	cellular component	IDA; ISS	78
GO:0005737	cytoplasm	cellular component	IDA	781
GO:0031965	nuclear membrane	cellular component	IEA	27
GO:0051660	establishment of centrosome localization	biological process	IEA	1
GO:0032403	protein complex binding	molecular function	IEA	30
GO:0005875	microtubule associated complex	cellular component	IDA[11889140]	15
GO:0034452	dynactin binding	molecular function	ISS[11056532]	1
GO:0007097	nuclear migration	biological process	IEA	1
GO:0005634	nucleus	cellular component	IDA	877
GO:0043025	neuronal cell body	cellular component	IEA	56
GO:0043274	phospholipase binding	molecular function	ISS[8028668]	3
GO:0005515	protein binding	molecular function	IPI	1015
GO:0001764	neuron migration	biological process	IMP[11163258]; ISS[10729324]	22
GO:0010977	negative regulation of neuron projection development	biological process	IEA	4
GO:0007611	learning or memory	biological process	ISS	6
GO:0000086	G2/M transition of mitotic cell cycle	biological process	TAS	34
GO:0021895	cerebral cortex neuron differentiation	biological process	IEA	1
GO:0008090	retrograde axon cargo transport	biological process	ISS[10729324]	1
GO:0008201	heparin binding	molecular function	ISS[8028668]	28
GO:0048854	brain morphogenesis	biological process	IMP[9063735]	3
GO:0051081	nuclear envelope disassembly	biological process	IEA	1
GO:0007405	neuroblast proliferation	biological process	ISS[10729324]	2

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa00565	Ether lipid metabolism	13

Genes shared at least 5 GO terms with PAFAH1B1 (count: 121)

Gene Symbol	Pathway Count	Pathway List
NDE1	14	cerebral cortex development; microtubule binding; establishment of mitotic spindle orientation; kinetochore; M phase of mitotic cell cycle; vesicle transport along microtubule; cytosol; mitotic cell cycle; mitotic prometaphase; centrosome; protein binding; neuron migration; G2/M transition of mitotic cell cycle; neuroblast proliferation;
SNCA	12	adult locomotory behavior; perinuclear region of cytoplasm; microtubule binding; growth cone; cytosol; cell cortex; dynein binding; phosphoprotein binding; cytoplasm; nucleus; phospholipase binding; protein binding;
CLASP1	12	microtubule organizing center organization; microtubule binding; kinetochore; M phase of mitotic cell cycle; cytosol; mitotic cell cycle; mitotic prometaphase; cell cortex; microtubule cytoskeleton organization; centrosome; protein binding; G2/M transition of mitotic cell cycle;
CDK5RAP2	11	perinuclear region of cytoplasm; microtubule binding; establishment of mitotic spindle orientation; cytosol; mitotic cell cycle; microtubule cytoskeleton organization; centrosome; cytoplasm; protein complex binding; protein binding; G2/M transition of mitotic cell cycle;
GSK3B	10	perinuclear region of cytoplasm; nucleolus; growth cone; cytosol; hippocampus development; centrosome; cytoplasm; nucleus; neuronal cell body; protein binding;
PLK1	10	microtubule binding; kinetochore; M phase of mitotic cell cycle; cytosol; mitotic cell cycle; mitotic prometaphase; centrosome; nucleus; protein binding; G2/M transition of mitotic cell cycle;
CEP57	10	microtubule binding; nucleolus; protein homodimerization activity; cytosol; mitotic cell cycle; centrosome; cytoplasm; nucleus; protein binding; G2/M transition of mitotic cell cycle;
XPO1	9	nucleolus; kinetochore; M phase of mitotic cell cycle; cytosol; mitotic cell cycle; nuclear envelope; mitotic prometaphase; cytoplasm; protein binding;
MAD1L1	9	kinetochore; M phase of mitotic cell cycle; cytosol; mitotic cell cycle; mitotic prometaphase; centrosome; cytoplasm; nucleus; protein binding;
KIF23	8	kinesin complex; microtubule binding; M phase of mitotic cell cycle; cytosol; mitotic cell cycle; centrosome; nucleus; protein binding;
KIF2C	8	kinesin complex; kinetochore; M phase of mitotic cell cycle; cytosol; mitotic cell cycle; mitotic prometaphase; nucleus; protein binding;
CLASP2	8	microtubule organizing center organization; M phase of mitotic cell cycle; cytosol; mitotic cell cycle; mitotic prometaphase; cell cortex; cytoplasm; protein binding;
TSC2	8	perinuclear region of cytoplasm; growth cone; protein homodimerization activity; cytosol; cytoplasm; nucleus; neuronal cell body; protein binding;
MAPT	8	microtubule binding; positive regulation of axon extension; growth cone; cytosol; microtubule cytoskeleton organization; microtubule associated complex; protein binding; neuron migration;
NUMA1	8	establishment of mitotic spindle orientation; nucleolus; cytosol; mitotic cell cycle; cytoplasm; nucleus; protein binding; G2/M transition of mitotic cell cycle;
ZW10	8	establishment of mitotic spindle orientation; kinetochore; M phase of mitotic cell cycle; cytosol; mitotic cell cycle; mitotic prometaphase; nucleus; protein binding;
CEP164	8	nucleolus; cytosol; mitotic cell cycle; centrosome; cytoplasm; nucleus; protein binding; G2/M transition of mitotic cell cycle;
SMC1A	8	nucleolus; kinetochore; M phase of mitotic cell cycle; mitotic cell cycle; mitotic prometaphase; cytoplasm; nucleus; protein binding;
MAPRE1	8	M phase of mitotic cell cycle; cytosol; mitotic cell cycle; mitotic prometaphase; centrosome; cytoplasm; protein binding; G2/M transition of mitotic cell cycle;
MAPK1	7	axon part; synaptic transmission; nucleolus; cytosol; cytoplasm; nucleus; protein binding;
DCTN3	7	perinuclear region of cytoplasm; microtubule-based process; cytosol; mitotic cell cycle; centrosome; protein binding; G2/M transition of mitotic cell cycle;
MAP1S	7	perinuclear region of cytoplasm; microtubule binding; cytosol; microtubule associated complex; nucleus; neuronal cell body; protein binding;
AXIN1	7	perinuclear region of cytoplasm; protein homodimerization activity; cytosol; cell cortex; cytoplasm; nucleus; protein binding;
TSC1	7	cerebral cortex development; growth cone; cytosol; cell cortex; hippocampus development; cytoplasm; protein binding;
APC	7	microtubule binding; kinetochore; cytosol; centrosome; cytoplasm; nucleus; protein binding;
TUBGCP2	7	nucleolus; cytosol; mitotic cell cycle; centrosome; nucleus; protein binding; G2/M transition of mitotic cell cycle;
CENPC	7	kinetochore; M phase of mitotic cell cycle; cytosol; mitotic cell cycle; mitotic prometaphase; cytoplasm; nucleus;
NUP160	7	kinetochore; M phase of mitotic cell cycle; cytosol; mitotic cell cycle; nuclear envelope; mitotic prometaphase; protein binding;
SMC3	7	M phase of mitotic cell cycle; mitotic cell cycle; mitotic prometaphase; dynein binding; cytoplasm; nucleus; protein binding;
CKAP5	7	M phase of mitotic cell cycle; cytosol; mitotic cell cycle; mitotic prometaphase; centrosome; protein binding; G2/M transition of mitotic cell cycle;
TUBG1	7	cytosol; mitotic cell cycle; microtubule cytoskeleton organization; centrosome; cytoplasm; protein binding; G2/M transition of mitotic cell cycle;
NF2	6	actin cytoskeleton organization; perinuclear region of cytoplasm; nucleolus; cytoplasm; nucleus; protein binding;
PSMC3	6	perinuclear region of cytoplasm; cytosol; mitotic cell cycle; cytoplasm; nucleus; protein binding;
KAT5	6	perinuclear region of cytoplasm; nucleolus; cytosol; protein complex binding; nucleus; protein binding;
USP2	6	perinuclear region of cytoplasm; positive regulation of mitotic cell cycle; cell cortex; centrosome; nucleus; protein binding;
MALT1	6	perinuclear region of cytoplasm; nucleolus; cytosol; cytoplasm; nucleus; protein binding;
PRKAR2B	6	perinuclear region of cytoplasm; cytosol; mitotic cell cycle; centrosome; cytoplasm; G2/M transition of mitotic cell cycle;
CEP250	6	perinuclear region of cytoplasm; cytosol; mitotic cell cycle; centrosome; protein binding; G2/M transition of mitotic cell cycle;
PDE2A	6	perinuclear region of cytoplasm; protein homodimerization activity; cytosol; cytoplasm; nucleus; protein binding;
NTRK2	6	cerebral cortex development; growth cone; protein homodimerization activity; cytosol; neuronal cell body; neuron migration;
UXT	6	microtubule binding; microtubule cytoskeleton organization; centrosome; cytoplasm; nucleus; protein binding;
KATNB1	6	microtubule binding; growth cone; dynein binding; centrosome; cytoplasm; neuronal cell body;
CRYAB	6	microtubule binding; protein homodimerization activity; cytosol; cytoplasm; nucleus; protein binding;
GPSM2	6	establishment of mitotic spindle orientation; nucleolus; cell cortex; cytoplasm; nucleus; protein binding;
RNF40	6	nucleolus; protein homodimerization activity; cytoplasm; protein complex binding; nucleus; protein binding;
MEN1	6	nucleolus; cytosol; negative regulation of JNK cascade; cytoplasm; nucleus; protein binding;
DAXX	6	nucleolus; protein homodimerization activity; cytosol; cytoplasm; nucleus; protein binding;
INCENP	6	kinetochore; M phase of mitotic cell cycle; cytosol; mitotic cell cycle; mitotic prometaphase; protein binding;
NR4A2	5	adult locomotory behavior; cytoplasm; nucleus; protein binding; neuron migration;
ATXN1	5	adult locomotory behavior; nucleolus; cytoplasm; nucleus; protein binding;
ROCK2	5	actin cytoskeleton organization; cytosol; centrosome; nucleus; protein binding;
CORO1A	5	actin cytoskeleton organization; protein homodimerization activity; cytoplasm; nucleus; protein binding;
PRKG1	5	actin cytoskeleton organization; cytosol; cytoplasm; protein binding; neuron migration;
PDPK1	5	actin cytoskeleton organization; synaptic transmission; cytosol; cytoplasm; protein binding;
SLC6A3	5	synaptic transmission; cytoplasm; protein complex binding; neuronal cell body; protein binding;
ACHE	5	synaptic transmission; perinuclear region of cytoplasm; protein homodimerization activity; nucleus; protein binding;
HSPA8	5	synaptic transmission; nucleolus; cytosol; nucleus; protein binding;
SNAP25	5	synaptic transmission; perinuclear region of cytoplasm; growth cone; cytoplasm; protein binding;
PARK2	5	perinuclear region of cytoplasm; cytosol; cytoplasm; nucleus; protein binding;
TPPP	5	perinuclear region of cytoplasm; microtubule binding; cytoplasm; nucleus; protein binding;
ATXN2	5	perinuclear region of cytoplasm; nucleolus; cytoplasm; nucleus; protein binding;
KLHL20	5	perinuclear region of cytoplasm; nucleolus; cytoplasm; nucleus; protein binding;
HERC5	5	perinuclear region of cytoplasm; cytosol; cytoplasm; nucleus; protein binding;
BSPRY	5	perinuclear region of cytoplasm; nucleolus; cell leading edge; cytoplasm; nucleus;
TPD52L1	5	perinuclear region of cytoplasm; protein homodimerization activity; cytoplasm; protein binding; G2/M transition of mitotic cell cycle;
TH	5	cerebral cortex development; cytosol; cytoplasm; nucleus; protein binding;
PRC1	5	microtubule binding; nucleolus; cytoplasm; nucleus; protein binding;
ARHGEF2	5	microtubule binding; establishment of mitotic spindle orientation; cytosol; neuronal cell body; protein binding;
TUBGCP6	5	microtubule binding; cytosol; mitotic cell cycle; centrosome; G2/M transition of mitotic cell cycle;
TUBGCP5	5	microtubule binding; cytosol; mitotic cell cycle; centrosome; G2/M transition of mitotic cell cycle;
ILK	5	positive regulation of axon extension; cytosol; cytoplasm; neuronal cell body; protein binding;
MAP3K11	5	microtubule-based process; protein homodimerization activity; centrosome; cytoplasm; protein binding;
CENPV	5	nucleolus; kinetochore; ameboidal cell migration; cytoplasm; nucleus;
PARN	5	nucleolus; cytosol; cytoplasm; nucleus; protein binding;
STXBP3	5	nucleolus; cytosol; cytoplasm; nucleus; protein binding;
AATF	5	nucleolus; centrosome; cytoplasm; nucleus; protein binding;
AIP	5	nucleolus; cytosol; cytoplasm; nucleus; protein binding;
MYO10	5	nucleolus; cytosol; cell cortex; cytoplasm; neuronal cell body;
HMGCS1	5	nucleolus; protein homodimerization activity; cytosol; cytoplasm; nucleus;
PAFAH1B2	5	nucleolus; protein homodimerization activity; lipid catabolic process; cytosol; cytoplasm;
RAB11FIP3	5	nucleolus; protein homodimerization activity; centrosome; nucleus; protein binding;
RCC1	5	nucleolus; cytoplasm; nuclear membrane; nucleus; protein binding;
ALKBH8	5	nucleolus; cytosol; cytoplasm; nucleus; protein binding;
IARS	5	nucleolus; cytosol; cytoplasm; nucleus; protein binding;
DHX9	5	nucleolus; centrosome; cytoplasm; nucleus; protein binding;
RCHY1	5	nucleolus; protein homodimerization activity; cytoplasm; nucleus; protein binding;
FLII	5	nucleolus; centrosome; cytoplasm; nucleus; protein binding;
PDCD4	5	nucleolus; cytosol; cytoplasm; nucleus; protein binding;
DCPS	5	nucleolus; cytosol; cytoplasm; nucleus; protein binding;
PPP1CA	5	nucleolus; cytosol; cytoplasm; nucleus; protein binding;
ID2	5	nucleolus; cytosol; cytoplasm; nucleus; protein binding;
BAIAP2	5	nucleolus; cytosol; cytoplasm; nucleus; protein binding;
TRIM5	5	nucleolus; protein homodimerization activity; cytoplasm; nucleus; protein binding;
MPHOSPH6	5	nucleolus; M phase of mitotic cell cycle; cytoplasm; nucleus; protein binding;
SART1	5	nucleolus; cytosol; cytoplasm; nucleus; protein binding;
KIF22	5	kinetochore; cytosol; cytoplasm; microtubule associated complex; nucleus;
CENPL	5	M phase of mitotic cell cycle; cytosol; mitotic cell cycle; mitotic prometaphase; nucleus;
APBB1	5	growth cone; cytoplasm; nucleus; protein binding; neuron migration;
PAK1	5	growth cone; cytosol; cytoplasm; nuclear membrane; protein binding;
CDC25B	5	positive regulation of mitotic cell cycle; cytosol; mitotic cell cycle; centrosome; G2/M transition of mitotic cell cycle;
BNIP3	5	protein homodimerization activity; nuclear envelope; cytoplasm; nucleus; protein binding;
PYCARD	5	protein homodimerization activity; cytosol; cytoplasm; nucleus; protein binding;
MTMR2	5	protein homodimerization activity; cytosol; cytoplasm; nucleus; protein binding;
PDCD6	5	protein homodimerization activity; cytoplasm; nuclear membrane; nucleus; protein binding;
RELA	5	cytosol; cytoplasm; protein complex binding; nucleus; protein binding;
CCP110	5	cytosol; mitotic cell cycle; centrosome; protein binding; G2/M transition of mitotic cell cycle;
CEP76	5	cytosol; mitotic cell cycle; centrosome; protein binding; G2/M transition of mitotic cell cycle;
CSNK1E	5	cytosol; mitotic cell cycle; nucleus; protein binding; G2/M transition of mitotic cell cycle;
STK11	5	cytosol; cytoplasm; protein complex binding; nucleus; protein binding;
CNTRL	5	cytosol; mitotic cell cycle; centrosome; protein binding; G2/M transition of mitotic cell cycle;
TNFAIP3	5	cytosol; centrosome; cytoplasm; nucleus; protein binding;
ARRB2	5	cytosol; cytoplasm; protein complex binding; nucleus; protein binding;
CCND1	5	cytosol; mitotic cell cycle; protein complex binding; nucleus; protein binding;
CEP72	5	cytosol; mitotic cell cycle; centrosome; protein binding; G2/M transition of mitotic cell cycle;
CENPJ	5	cytosol; mitotic cell cycle; centrosome; protein binding; G2/M transition of mitotic cell cycle;
PTTG1	5	cytosol; mitotic cell cycle; cytoplasm; nucleus; protein binding;
CHEK1	5	cytosol; centrosome; nucleus; protein binding; G2/M transition of mitotic cell cycle;
PRKD1	5	cytosol; cell cortex; cytoplasm; nucleus; protein binding;
CDC45	5	mitotic cell cycle; centrosome; cytoplasm; nucleus; protein binding;
PPP4C	5	microtubule cytoskeleton organization; centrosome; cytoplasm; nucleus; protein binding;
STRN3	5	cytoplasm; protein complex binding; nucleus; neuronal cell body; protein binding;

Genes shared at least 2 KEGG pathways with PAFAH1B1 (count: 0)

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Region: chr17:2496504..2588909 View in gBrowse