split hand/foot malformation (ectrodactyly) type 1

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Synonym

-

Expression Pattern

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain blood connective
EST nodata
GeneChip cerebrum:8.14 cerebellum:8.58 brain stem:8.36 corpus callosum/glia:- pineal gland:- peripheral nerve:9.34 spine:- retina:- eye:8.02 artery/aorta:- vein:- lymphnode:- peripheral blood:- spleen:10.08 thymus:10.99 bone marrow:9.10 adipose:- bone:- skin:-
CAGE nodata
RNA-seq nodata
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST nodata
GeneChip uterus:- placenta:- prostate:- ovary:- testis:- heart:9.54 muscle:9.82 esophagus:- stomach:- intestine:10.05 colon:10.26 liver/hepato:- lung:- bladder:- kidney:9.11 pituitary:9.81 thyroid/parathyroid:- adrenal gland:- pancreas:- breast:- salivary:-
CAGE nodata
RNA-seq nodata

Gene Information

IDs

Refseq ID NM_001126090
Gene ID 680532
Unigene ID -
Probe set ID rc_AA893939_g_at  [RG_U34A]
Ensembl ID ENSRNOG00000010420

Orthologous Gene

Human[1]  NM_001201450, NM_006304
Mouse[2]  NM_009169, NM_006304

Chromosomal Region

4q13  [31,316,084  -  31,336,240]

Gene Family (Interpro ID)

-

Link to Pubmed  (Pubmed ID)

12228710
17975104

Gene Ontology  (GO ID)

Biological Process

GO:0000724  double-strand break repair via homologous recombination
GO:0006508  proteolysis

Cellular Component

GO:0032039  integrator complex
GO:0000502  proteasome complex

Molecular Function

GO:0008233  peptidase activity