Ensembl ID
ENSG00000131504
Gene ID
1729
Accession
2876
Gene Symbol
DIAPH1
Alias
DIA1;DRF1;DFNA1;LFHL1;SCBMS;hDIA1;mDia1
Full Name
diaphanous related formin 1
Position
5 : 141515021 - 141619055
Length
104035 bases
Strand
Minus strand
Status
Confidence
Main interacting RNAs N.A. RBP type
Non-canonical_RBPs
Summary
This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ENSG00000131504 Expression In 33 Tumors
Ensembl ID
Gene symbol
Log2 Foldchange
Pvaue
Cancer
ENSG00000131504
0.82
2.76e-14
KICH
ENSG00000131504
-0.7
9.77e-23
LUSC
ENSG00000131504
0.64
1.58e-13
UCEC
Ensembl ID
Gene symbol
Disease/phenotype
Mutation type
Mutated / Total samples
Literature
Ensembl ID
Gene symbol
Cancer
P-value
Which worse
show
ENSG00000131504
STAD
0.018
low
show
ENSG00000131504
PAAD
0.00052
high
show
ENSG00000131504
UCEC
0.03
high
show
ENSG00000131504
ACC
0.029
high
show
ENSG00000131504
LUSC
0.014
high
show
ENSG00000131504
READ
0.0059
low
show
ENSG00000131504
KIRP
0.05
low
show
ENSG00000131504
THYM
0.015
low
show
ENSG00000131504
COAD
0.0052
low
show
ENSG00000131504
UCS
0.016
high
show
ENSG00000131504
OV
0.0048
high
show
ENSG00000131504
PRAD
0.0086
high
show
ENSG00000131504
TGCT
0.015
high
show
ENSG00000131504
LAML
0.038
low
show
ENSG00000131504
GBM
0.033
high
show
ENSG00000131504
SKCM
0.031
low
show
Ensembl ID
Gene symbol
Cancer
CNV type
-log10(q-value)
G-score
average amplitude
frequency
ENSG00000131504
LAML
Del
6.887040
0.097495
0.800690
0.089005
ENSG00000131504
LGG
Del
1.881657
0.051283
0.395828
0.093567
ENSG00000131504
SKCM
Del
7.404516
0.146910
0.492329
0.354223
ENSG00000131504
KIRC
Amp
51.113742
0.292379
0.544490
0.607955
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