Annotation Detail for IGSF1

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Basic Information Top

Gene Symbol:	IGSF1 ( IGCD1,IGDC1,INHBP,KIAA0364,MGC75490,PGSF2,p120 )
Gene Full Name:	immunoglobulin superfamily, member 1
Band:	Xq25
Quick Links	Entrez ID:3547; OMIM: 300137; Uniprot ID:IGSF1_HUMAN; ENSEMBL ID: ENSG00000147255; HGNC ID: 5948
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:14 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:0 results

Location(AA)	Modification
53	N-linked (GlcNAc...) (Potential).
338	N-linked (GlcNAc...) (Potential).
374	N-linked (GlcNAc...) (Potential).
381	N-linked (GlcNAc...) (Potential).
607	N-linked (GlcNAc...) (Potential).
747	N-linked (GlcNAc...) (Potential).
798	N-linked (GlcNAc...) (Potential).
846	N-linked (GlcNAc...) (Potential).
939	N-linked (GlcNAc...) (Potential).
986	N-linked (GlcNAc...) (Potential).
1027	N-linked (GlcNAc...) (Potential).
1082	N-linked (GlcNAc...) (Potential).
1147	N-linked (GlcNAc...) (Potential).
1223	N-linked (GlcNAc...) (Potential).

Validated transcription factor binding site by ChIP-Chip and ChIP-Seq

RefSeq ID: NM_001555
Location:chrX 130235162-130250935
strand:-

Upstream the gene:0 results
Downstream the gene:4 results
Inside the gene:2 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	130224323	130224856	533	10573
Myc	K562	GSE19551	130224435	130224810	375	10540
hScc1	G2	GSE9613	130224323	130224856	533	10573
hScc1	G2	GSE9613	130225695	130225936	241	9347

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	130240093	130240332	239	0
hScc1	G2	GSE9613	130239892	130240222	330	0

Validated miRNA targets

Cis-Nats regulation

Cluster ID	Plue Type	Plus Gene Name	Plus Chromosome	Plus Start	Plus End	Overlap Length	Minus Type	Minus Gene Name	Minus Chromosome	Minus Star	Minus End	Type
28136	mRNA	OR13H1	chrX	130403582	130404509	927	mRNA	IGSF1	chrX	130133019	130438408	Non-exonic Bidirectional (NOB) pairs

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

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