Annotation Detail for SPATA19

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Basic Information Top

Gene Symbol:	SPATA19 ( CT132,FLJ25851,SPAS1,spergen1 )
Gene Full Name:	spermatogenesis associated 19
Band:	11q25
Quick Links	Entrez ID:219938; OMIM: 609805; Uniprot ID:SPT19_HUMAN; ENSEMBL ID: ENSG00000166118; HGNC ID: 30614
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:1 results
Experimental PTM Sites from dbPTM:3 results
Predicted PTM Sites by profile HMM from dbPTM:7 results

Location(AA)	Modification
148	Phosphoserine.

Location(AA)	Modification	Resource
64	Phosphoserine(ATM)	HMM predict
75	Phosphoserine(ATM)	HMM predict
75	Phosphoserine(IKK)	HMM predict
78	O-linked	HMM predict
102	N-linked	HMM predict
148	Phosphoserine(PKG)	HMM predict
163	Phosphoserine(PKA)	HMM predict

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

RefSeq ID: NM_174927
Location:chr11 133215726-133220601
strand:-

Upstream the gene:0 results
Downstream the gene:16 results
Inside the gene:0 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	133210393	133210604	211	5228
CTCF	CD4	SISSRdata	133210393	133210604	211	5228
CTCF	Hela	GSE12889	133196773	133197115	342	18783
CTCF	Jurkat	GSE12889	133210295	133210585	290	5287
NRSF	pAb	Jurkat	133208333	133209139	806	6991
hScc1	Bcell	GSE12603	133196838	133197050	212	18783
hScc1	Bcell	GSE12603	133208333	133209057	724	7032
hScc1	Bcell	GSE12603	133209712	133210542	830	5600
hScc1	Bcell	GSE12603	133210911	133211201	290	4671
hScc1	Bcell	GSE12603	133215501	133215729	228	112
hScc1	CdLS	GSE12603	133196769	133197050	281	18817
hScc1	CdLS	GSE12603	133208472	133208875	403	7053
hScc1	CdLS	GSE12603	133210254	133210769	515	5215
hScc1	G2	GSE9613	133196396	133197050	654	19004
hScc1	G2	GSE9613	133206255	133207083	828	9058
hScc1	G2	GSE9613	133209680	133211317	1637	5228

Validated miRNA targets

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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