Annotation Detail for BTN1A1

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Basic Information Top

Gene Symbol:	BTN1A1 ( BT,BTN )
Gene Full Name:	butyrophilin, subfamily 1, member A1
Band:	6p22.2
Quick Links	Entrez ID:696; OMIM: 601610; Uniprot ID:BT1A1_HUMAN; ENSEMBL ID: ENSG00000124557; HGNC ID: 1135
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:2 results
Experimental PTM Sites from dbPTM:2 results
Predicted PTM Sites by profile HMM from dbPTM:14 results

Location(AA)	Modification
55	N-linked (GlcNAc...).
215	N-linked (GlcNAc...).

Location(AA)	Modification	Resource
53	Phosphoserine(CDC2)	HMM predict
55	N-linked	HMM predict
71	Phosphoserine(CDC2)	HMM predict
96	Phosphothreonine(PKA)	HMM predict
132	Phosphotyrosine(EGFR)	HMM predict
166	Phosphoserine(CK1)	HMM predict
201	Phosphothreonine(PKC)	HMM predict
388	Phosphothreonine(CDC2)	HMM predict
407	Phosphothreonine(MAPK)	HMM predict
407	Phosphothreonine(CDK)	HMM predict
411	Phosphothreonine(MAPK)	HMM predict
411	Phosphothreonine(CDK)	HMM predict
449	N-linked	HMM predict
498	Phosphoserine(CDC2)	HMM predict

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

RefSeq ID: NM_001732
Location:chr6 26609427-26618628
strand:+

Upstream the gene:4 results
Downstream the gene:17 results
Inside the gene:3 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	26601628	26601797	169	7715
CTCF	CD4	SISSRdata	26601628	26601797	169	7715
Rb	shRbSenescence	GSE19898	26609305	26609501	196	25
TFAP2C	MCF7	GSE21234	26608332	26608823	491	850

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	26628860	26629330	470	10467
CTCF	G2	GSE9613	26629764	26630575	811	11541
H3ac	HepG2	E	26623601	26624060	459	5202
H3ac	HepG2	E	26630538	26631375	837	12328
KLF4	hES	GSE17917	26628970	26629211	241	10462
PHF8	293T	GSE20725	26628567	26630703	2136	11007
PHF8	Hs68minusFBS	GSE20725	26628728	26630927	2199	11199
PHF8	Hs68plusFBS	GSE20725	26628860	26631041	2181	11322
Pol3	GM12878	GSE19551	26629273	26629905	632	10961
Pol3	K562	GSE19551	26629123	26629864	741	10865
Stat6	IL-4-hr1	GSE17850	26628381	26628962	581	10043
TAF	Hela	GSE8489	26630538	26631008	470	12145
TAF	k562	GSE8489	26630493	26632251	1758	12744
USF1	HepG2	E	26628474	26628860	386	10039
hScc1	Bcell	GSE12603	26629801	26630575	774	11560
p130	shRbQuiescent	GSE19898	26630121	26630724	603	11794
p130	shRbSenescent	GSE19898	26630107	26630567	460	11709

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Rb	Senescent	GSE19898	26609615	26610181	566	0
hScc1	Bcell	GSE12603	26609773	26610000	227	0
p130	shRbSenescent	GSE19898	26610186	26610301	115	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
22272	mRNA	BTN1A1	chr6	26584518	26618629	23	mRNA	LOC285819	chr6	26580151	26590716	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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