Annotation Detail for TBX1

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	TBX1 ( CAFS,CTHM,DGCR,DGS,DORV,TBX1C,TGA,VCFS )
Gene Full Name:	T-box 1
Band:	22q11.21
Quick Links	Entrez ID:6899; OMIM: 602054; Uniprot ID:TBX1_HUMAN; ENSEMBL ID: ENSG00000184058; HGNC ID: 11592
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:0 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:16 results

No data

Location(AA)	Modification	Resource
19	Phosphoserine(CK1)	HMM predict
80	O-linked	HMM predict
189	Phosphothreonine(CDC2)	HMM predict
189	Phosphothreonine(MAPK)	HMM predict
199	Phosphoserine(CDC2)	HMM predict
255	Phosphotyrosine(INSR)	HMM predict
255	Phosphotyrosine(Syk)	HMM predict
271	Phosphothreonine(PKA)	HMM predict
327	O-linked	HMM predict
327	Phosphoserine(CDC2)	HMM predict
332	O-linked	HMM predict
350	Phosphothreonine(PKC)	HMM predict
354	Phosphothreonine(CDC2)	HMM predict
354	Phosphothreonine(MAPK)	HMM predict
354	Phosphothreonine(CDK)	HMM predict
391	Arginine	HMM predict

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

RefSeq ID: NM_005992
Location:chr22 18124225-18151109
strand:+

Upstream the gene:0 results
Downstream the gene:0 results
Inside the gene:1 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Myc	K562	GSE19551	18147208	18148349	1141	0

Validated miRNA targets

miR Walk:16 results
Tarbase V5.0:0 results

Micro RNA Name	Stem Loop Name	The chromosome that miRNA located	Publication
hsa-miR-17	hsa-mir-17	13	21145505
hsa-miR-17	hsa-mir-17	13	21145505
hsa-miR-17*	hsa-mir-17	13	21145505
hsa-miR-17*	hsa-mir-17	13	21145505
hsa-miR-20a	hsa-mir-20a	13	21145505
hsa-miR-20a	hsa-mir-20a	13	21145505
hsa-miR-20a*	hsa-mir-20a	13	21145505
hsa-miR-20a*	hsa-mir-20a	13	21145505
hsa-miR-31	hsa-mir-31	9	20980827
hsa-miR-31	hsa-mir-31	9	20980827
hsa-miR-31*	hsa-mir-31	9	20980827
hsa-miR-31*	hsa-mir-31	9	20980827
hsa-miR-92a	hsa-mir-92a-1	13	21145505
hsa-miR-92a	hsa-mir-92a-2	X	21145505
hsa-miR-92a	hsa-mir-92a-1	13	21145505
hsa-miR-92a	hsa-mir-92a-2	X	21145505

Cis-Nats regulation

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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