AutismKB 2.0

Annotation Detail for HMHA1


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Basic Information Top
Gene Symbol:HMHA1 ( HA-1,HLA-HA1,KIAA0223 )
Gene Full Name: histocompatibility (minor) HA-1
Band: 19p13.3
Quick LinksEntrez ID:23526; OMIM: 601155; Uniprot ID:HMHA1_HUMAN; ENSEMBL ID: ENSG00000180448; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
23Phosphoserine.
25Phosphoserine.
73Phosphoserine.
93Phosphoserine.
99Phosphoserine.
305N6-acetyllysine.
569Phosphoserine.
578Phosphoserine (By similarity).
619Phosphoserine.
1027Phosphoserine (By similarity).
1030Phosphoserine (By similarity).
1032Phosphoserine (By similarity).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012292
  • Location:chr19 1018173-1037626
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
VDR GM10861-stimGSE22484 1034566 1041056 6490 185
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 1019555 1019772 217 0
CTCF G2GSE9613 1025628 1026075 447 0
ETS1 JurkatGSE17954 1018753 1020654 1901 0
NFkBII GM10847GSE19485 1027587 1028827 1240 0
VDR GM10861-stimGSE22484 1018662 1021065 2403 0
hScc1 BcellGSE12603 1019332 1019698 366 0
hScc1 BcellGSE12603 1025525 1026111 586 0
hScc1 BcellGSE12603 1028029 1028278 249 0
hScc1 BcellGSE12603 1030628 1031072 444 0
hScc1 BcellGSE12603 1036635 1037046 411 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
12428 mRNA HA-1 chr19 1018173 1037627 30 EST chr19 1037597 1039642Sense/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


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