Annotation Detail for ALDH6A1

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Basic Information Top

Gene Symbol:	ALDH6A1 ( MGC40271,MMSADHA,MMSDH )
Gene Full Name:	aldehyde dehydrogenase 6 family, member A1
Band:	14q24.3
Quick Links	Entrez ID:4329; OMIM: 603178; Uniprot ID:MMSA_HUMAN; ENSEMBL ID: ENSG00000119711; HGNC ID: 7179
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:0 results
Predicted PTM Sites by profile HMM from dbPTM:9 results

Location(AA)	Modification
55	N6-acetyllysine (By similarity).
117	N6-acetyllysine (By similarity).
331	N6-acetyllysine (By similarity).

Location(AA)	Modification	Resource
34	O-linked	HMM predict
34	O-linked	HMM predict
34	Phosphoserine(CK1)	HMM predict
36	O-linked	HMM predict
393	Phosphotyrosine(INSR)	HMM predict
410	N-linked	HMM predict
445	N-linked	HMM predict
525	Phosphoserine(CDC2)	HMM predict
525	Phosphoserine(MAPK)	HMM predict

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

RefSeq ID: NM_005589
Location:chr14 73596625-73620948
strand:-

Upstream the gene:1 results
Downstream the gene:0 results
Inside the gene:7 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
FOXA1	MCF7	GSE15244	73620330	73621611	1281	22

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	73620510	73621013	503	0
H3K4me3	colorectal	cancer	73619496	73620660	1164	0
H3ac	HepG2	E	73619882	73620962	1080	0
PHF8	HeLa	GSE20725	73620500	73621063	563	0
Rb	Growing	GSE19898	73619913	73620126	213	0
Rb	Growing	GSE19898	73620783	73621106	323	0
hScc1	Bcell	GSE12603	73620712	73621039	327	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
8124	mRNA	C14orf45	chr14	73586209	73602546	279	mRNA	ALDH6A1	chr14	73596625	73620949	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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