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	SHFM1
Previous Symbol	SHFD1
Symbol Alias	DSS1, Shfdg1, ECD, SEM1, SHSF1
Approved Name	split hand/foot malformation (ectrodactyly) type 1
Name Alias	deleted in split-hand/foot 1
Location	7q21.3
Position	chr7:96110938-96339203, -
External Links	HGNC: 10845 Entrez Gene: 7979 Ensembl: ENSG00000127922 UCSC: uc003uoi.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy

Gene related studies (count: 0)

Gene related SNPs (count: 20)

Literature-origin SNPs (count: 0)

LD-proxies (count: 20)

rs_ID	Location	Functional Annotation
rs7808184	Chr7:96229033(Fwd)	intron_variant; nc_transcript_variant
rs9656040	Chr7:96288964(Fwd)	intron_variant; nc_transcript_variant
rs10261558	Chr7:96284589(Fwd)	intron_variant; nc_transcript_variant
rs10227638	Chr7:96292497(Fwd)	intron_variant; nc_transcript_variant
rs10215915	Chr7:96290532(Fwd)	intron_variant; nc_transcript_variant
rs10215003	Chr7:96274542(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs4410848	Chr7:96268743(Fwd)	intron_variant; nc_transcript_variant
rs12216616	Chr7:96282080(Fwd)	intron_variant; nc_transcript_variant
rs6465531	Chr7:96279746(Fwd)	3_prime_UTR_variant; intron_variant; nc_transcript_variant
rs3823755	Chr7:96303483(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs6955994	Chr7:96307971(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs4729274	Chr7:96313582(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs10260320	Chr7:96319702(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs12537768	Chr7:96294270(Fwd)	intron_variant; nc_transcript_variant
rs10269596	Chr7:96295344(Fwd)	intron_variant; nc_transcript_variant
rs4729273	Chr7:96296615(Fwd)	intron_variant; nc_transcript_variant
rs10272873	Chr7:96301696(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs10249092	Chr7:96320604(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs10261833	Chr7:96323925(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs4342522	Chr7:96327293(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 6)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0000502	proteasome complex	Cellular Component	IDA[15117943]	14
GO:0000724	double-strand break repair via homologous recombination	Biological Process		12
GO:0008233	peptidase activity	Molecular Function	IDA[10373512]	15
GO:0032039	integrator complex	Cellular Component	IDA[16239144]	3
GO:0005515	protein binding	Molecular Function	IPI[10373512]	910
GO:0006508	proteolysis	Biological Process	IDA[10373512]	102

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa03050	Proteasome	7	The proteasome is a protein-destroying apparatus involved in...... The proteasome is a protein-destroying apparatus involved in many essential cellular functions, such as regulation of cell cycle, cell differentiation, signal transduction pathways, antigen processing for appropriate immune responses, stress signaling, inflammatory responses, and apoptosis. It is capable of degrading a variety of cellular proteins in a rapid and timely fashion and most substrate proteins are modified by ubiquitin before their degradation by the proteasome. The proteasome is a large protein complex consisting of a proteolytic core called the 20S particle and ancillary factors that regulate its activity in various ways. The most common form is the 26S proteasome containing one 20S core particle and two 19S regulatory particles that enable the proteasome to degrade ubiquitinated proteins by an ATP-dependent mechanism. Another form is the immunoproteasome containing two 11S regulatory particles, PA28 alpha and PA28 beta, which are induced by interferon gamma under the conditions of intensified immune response. Other regulatory particles include PA28 gamma and PA200. Although PA28 gamma also belongs to a family of activators of the 20S proteasome, it is localized within the nucleus and forms a homoheptamer. PA28 gamma has been implicated in the regulation of cell cycle progression and apoptosis. PA200 has been identified as a large nuclear protein that stimulates proteasomal hydrolysis of peptides. More...
hsa03440	Homologous recombination	7	Homologous recombination (HR) is essential for the accurate ...... Homologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves the generation of a single-stranded region of DNA, followed by strand invasion, formation of a Holliday junction, DNA synthesis using the intact strand as a template, branch migration and resolution. It is investigated that RecA/Rad51 family proteins play a central role. The breast cancer susceptibility protein Brca2 and the RecQ helicase BLM (Bloom syndrome mutated) are tumor suppressors that maintain genome integrity, at least in part, through HR. More...

Genes shared at least 5 GO terms with SHFM1 (count: 0)

Genes shared at least 2 KEGG pathways with SHFM1 (count: 0)

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Region: chr7:96110938..96339203 View in gBrowse