Annotation Detail for CD101

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Basic Information Top

Gene Symbol:	CD101 ( IGSF2,V7 )
Gene Full Name:	CD101 molecule
Band:	1p13.1
Quick Links	Entrez ID:9398; OMIM: 604516; Uniprot ID:IGSF2_HUMAN; ENSEMBL ID: ENSG00000134256; HGNC ID: 5949
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:3 results
Experimental PTM Sites from dbPTM:2 results
Predicted PTM Sites by profile HMM from dbPTM:28 results

Location(AA)	Modification
44	N-linked (GlcNAc...) (Potential).
255	EWI motif.
322	N-linked (GlcNAc...) (Potential).

Location(AA)	Modification	Resource
44	N-linked	HMM predict
65	N-linked	HMM predict
95	Phosphotyrosine(EGFR)	HMM predict
131	Sulfotyrosine	HMM predict
150	O-linked	HMM predict
193	Phosphoserine(ATM)	HMM predict
287	N-linked	HMM predict
322	N-linked	HMM predict
341	Phosphotyrosine(Syk)	HMM predict
375	Phosphotyrosine(EGFR)	HMM predict
385	Phosphothreonine	HMM predict
444	Phosphoserine(CK1)	HMM predict
509	Phosphotyrosine(INSR)	HMM predict
525	Phosphoserine(IKK)	HMM predict
539	Phosphoserine(CK1)	HMM predict
555	O-linked	HMM predict
598	N-linked	HMM predict
638	Phosphotyrosine(SRC)	HMM predict
716	Phosphoserine(CDC2)	HMM predict
721	N-linked	HMM predict
744	Phosphothreonine(CDC2)	HMM predict
788	N-linked	HMM predict
823	N-linked	HMM predict
873	Phosphotyrosine(INSR)	HMM predict
889	Phosphoserine(PKB)	HMM predict
985	Phosphoserine(PKG)	HMM predict
986	Phosphothreonine(PKC)	HMM predict
991	Phosphothreonine(PKC)	HMM predict

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

RefSeq ID: NM_004258
Location:chr1 117345956-117380561
strand:+

Upstream the gene:2 results
Downstream the gene:4 results
Inside the gene:9 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Oct1	H2O2-Hela	GSE14283	117343763	117343795	32	2178
Oct1	Hela	GSE14283	117343764	117343794	30	2178

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Oct1	H2O2-Hela	GSE14283	117389054	117389099	45	8515
Oct1	H2O2-Hela	GSE14283	117390574	117390613	39	10032
Oct1	Hela	GSE14283	117389054	117389116	62	8524
Oct1	Hela	GSE14283	117390574	117390611	37	10031

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
ER	Breast-Cancer	GSE22609	117361898	117362651	753	0
FOXA1	MCF7	GSE15244	117347313	117347653	340	0
FOXA1	MCF7	GSE15244	117357370	117358037	667	0
FoxA1	MCF7	MACSdata	117357406	117357815	409	0
Myc	K562	GSE19551	117380204	117380612	408	0
Oct1	Hela	GSE14283	117366160	117366187	27	0
Oct1	Hela	GSE14283	117370265	117370343	78	0
TFAP2C	MCF7	GSE21234	117357406	117358189	783	0
TFAP2C	MCF7	GSE21234	117359688	117360300	612	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
1356	mRNA	IGSF2	chr1	117256475	117291081	396	mRNA		chr1	117280145	117314154	Sense/Antisense (SA) 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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