Ensembl ID
ENSG00000143575
Gene ID
10456
Accession
16915
Gene Symbol
HAX1
Alias
SCN3;HS1BP1;HCLSBP1
Full Name
HCLS1 associated protein X-1
Position
1 : 154272355 - 154275875
Length
3521 bases
Strand
Plus strand
Status
Confidence
Main interacting RNAs N.A. RBP type
Non-canonical_RBPs
Summary
The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ENSG00000143575 Expression In 33 Tumors
Ensembl ID
Gene symbol
Log2 Foldchange
Pvaue
Cancer
ENSG00000143575
0.56
3.67e-27
BRCA
ENSG00000143575
0.63
1.14e-11
LUAD
Ensembl ID
Gene symbol
Disease/phenotype
Mutation type
Mutated / Total samples
Literature
Ensembl ID
Gene symbol
Cancer
P-value
Which worse
show
ENSG00000143575
MESO
0.035
high
show
ENSG00000143575
SARC
0.001
low
show
ENSG00000143575
PAAD
0.0077
low
show
ENSG00000143575
ACC
0.0072
high
show
ENSG00000143575
HNSC
0.017
high
show
ENSG00000143575
READ
0.045
high
show
ENSG00000143575
KIRP
0.003
high
show
ENSG00000143575
PCPG
0.019
high
show
ENSG00000143575
THYM
0.034
high
show
ENSG00000143575
BRCA
0.02
low
show
ENSG00000143575
UCS
0.0091
low
show
ENSG00000143575
ESCA
0.0042
high
show
ENSG00000143575
OV
0.0084
low
show
ENSG00000143575
LAML
0.013
high
show
ENSG00000143575
GBM
0.048
low
show
ENSG00000143575
SKCM
0.0017
high
show
ENSG00000143575
LIHC
0.00063
high
show
Ensembl ID
Gene symbol
Cancer
CNV type
-log10(q-value)
G-score
average amplitude
frequency
ENSG00000143575
CHOL
Amp
1.106022
0.534678
1.013955
0.638889
ENSG00000143575
LUSC
Amp
3.387724
0.271032
0.548578
0.526946
ENSG00000143575
LUAD
Amp
20.044610
0.395907
0.605848
0.742248
ENSG00000143575
CESC
Amp
2.712063
0.201679
0.621250
0.532203
ENSG00000143575
SARC
Amp
4.375042
0.430812
0.724089
0.389105
ENSG00000143575
SKCM
Amp
3.767482
0.210940
0.685532
0.553134
ENSG00000143575
LIHC
Amp
17.991080
0.397228
0.904559
0.748649
ENSG00000143575
PCPG
Amp
3.268801
0.113313
0.695367
0.172840
ENSG00000143575
TGCT
Amp
0.658729
0.114210
0.441408
0.460000
ENSG00000143575
DLBC
Amp
1.306895
0.247389
0.653875
0.250000
ENSG00000143575
BLCA
Amp
10.394212
0.397001
0.599651
0.465686
ENSG00000143575
BRCA
Amp
21.068975
0.357521
0.785999
0.730556
ENSG00000143575
STAD
Amp
2.332161
0.178388
0.469591
0.362812
ENSG00000143575
PRAD
Amp
2.645596
0.072304
0.621479
0.081301
ENSG00000143575
UCEC
Amp
7.725586
0.219242
0.865348
0.441558
ENSG00000143575
OV
Amp
8.229992
0.515072
0.708621
0.604491
Copyright © 2023, Bioinformatics Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, China. All Rights Reserved.