AutismKB 2.0

Annotation Detail for CMYA5


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Basic Information Top
Gene Symbol:CMYA5 ( C5orf10,DKFZp451G182,DKFZp451G223,SPRYD2,TRIM76 )
Gene Full Name: cardiomyopathy associated 5
Band: 5q14.1
Quick LinksEntrez ID:202333; OMIM: 612193; Uniprot ID:CMYA5_HUMAN; ENSEMBL ID: ENSG00000164309; HGNC ID: 14305
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
209Phosphotyrosine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_153610
  • Location:chr5 79021414-79131803
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Gata2 K562GSE18868 79142592 79143154 562 11070
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 79034624 79034735 111 0
CTCF CD4SISSRdata 79034624 79034735 111 0
CTCF G2GSE9613 79127202 79127452 250 0
FOXA1 MCF7GSE15244 79021625 79022301 676 0
FoxA1 MCF7MACSdata 79021773 79021966 193 0
KLF4 hESGSE17917 79021414 79021615 201 0
Nanog ESGSE20650 79116039 79116164 125 0
Oct4 hESGSE17917 79106188 79106402 214 0
RARA MCF7GSE15244 79034372 79035363 991 0
TAF HelaGSE8489 79068949 79069659 710 0
TFAP2C MCF7GSE21234 79021548 79022281 733 0
hScc1 CdLSGSE12603 79051124 79051409 285 0
p63 keratinocytesGSE17611 79021435 79022376 941 0
Validated miRNA targets Top
Cis-Nats regulation Top
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
21163 mRNA CMYA5 chr5 79021414 79131804 4225 mRNA chr5 79060864 79065089Sense/Antisense (SA) pairs

Simple Query:


  (e.g. CHD8)

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