Ensembl ID ENSG00000152601 Gene ID 4154 Accession 6923
Gene Symbol MBNL1 Alias EXP;MBNL Full Name muscleblind like splicing regulator 1
Position 3 : 152268040 - 152465780 Length 197741 bases Strand Plus strand
Status Confidence Main interacting RNAsmRNARBP type Canonical_RBPs
Summary This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]

ENSG00000152601 Expression In 33 Tumors

Ensembl ID Gene symbol Log2 Foldchange Pvaue Cancer
ENSG00000152601 MBNL1 0.58 7.60e-29 KIRC
ENSG00000152601 MBNL1 -1.3 4.32e-21 BLCA
ENSG00000152601 MBNL1 -0.9 3.11e-63 BRCA
ENSG00000152601 MBNL1 -0.8 2.43e-17 COAD
ENSG00000152601 MBNL1 -1.3 6.29e-21 READ
ENSG00000152601 MBNL1 -0.5 1.49e-18 LUSC
ENSG00000152601 MBNL1 -0.6 5.02e-21 PRAD
ENSG00000152601 MBNL1 -1.2 9.88e-39 UCEC
Ensembl ID Gene symbol Cancer types Pubmed ID
ENSG00000152601 MBNL1 AML 18842155
ENSG00000152601 MBNL1 tumors 25380226
ENSG00000152601 MBNL1 cancer 25908786
ENSG00000152601 MBNL1 breast cancer 25913416
ENSG00000152601 MBNL1 GBM 26881967
ENSG00000152601 MBNL1 breast cancer 26883358
ENSG00000152601 MBNL1 cancer 27197215
ENSG00000152601 MBNL1 cancer 27503141
ENSG00000152601 MBNL1 cancer 28535287
ENSG00000152601 MBNL1 prostate cancer 30456384
ENSG00000152601 MBNL1 cancer 30664186
ENSG00000152601 MBNL1 tumor 31113460
ENSG00000152601 MBNL1 colon cancer 31255531
ENSG00000152601 MBNL1 bladder cancer 31769229
ENSG00000152601 MBNL1 cervical cancer 31791583
Ensembl ID Gene symbol Disease/phenotype Mutation type Mutated / Total samples Literature
Ensembl ID Gene symbol Cancer P-value Which worse show
ENSG00000152601 MBNL1 SARC 0.0038 low
ENSG00000152601 MBNL1 STAD 0.0049 high
ENSG00000152601 MBNL1 CHOL 0.031 low
ENSG00000152601 MBNL1 PAAD 0.0022 high
ENSG00000152601 MBNL1 ACC 0.032 low
ENSG00000152601 MBNL1 LGG 0.0011 high
ENSG00000152601 MBNL1 LUSC 0.0067 low
ENSG00000152601 MBNL1 HNSC 0.0025 low
ENSG00000152601 MBNL1 KICH 0.0032 high
ENSG00000152601 MBNL1 LUAD 0.05 low
ENSG00000152601 MBNL1 PCPG 0.036 high
ENSG00000152601 MBNL1 THYM 0.017 low
ENSG00000152601 MBNL1 BRCA 0.0054 low
ENSG00000152601 MBNL1 COAD 0.0035 low
ENSG00000152601 MBNL1 OV 0.035 low
ENSG00000152601 MBNL1 LAML 0.019 low
ENSG00000152601 MBNL1 GBM 0.012 low
ENSG00000152601 MBNL1 CESC 0.011 low
ENSG00000152601 MBNL1 LIHC 0.045 high
Ensembl ID Gene symbol Cancer CNV type -log10(q-value) G-score average amplitude frequency
ENSG00000152601 MBNL1 LUSC Amp 52.508274 0.916296 0.970785 0.844311
ENSG00000152601 MBNL1 CESC Amp 12.489141 0.415722 0.967279 0.711864
ENSG00000152601 MBNL1 ESCA Amp 7.054007 0.558353 0.841028 0.597826
ENSG00000152601 MBNL1 HNSC Amp 24.495683 0.449015 0.738713 0.678161
ENSG00000152601 MBNL1 PCPG Del 0.883794 0.062152 0.630667 0.580247
ENSG00000152601 MBNL1 BRCA Amp 1.971867 0.169613 0.542665 0.277778
ENSG00000152601 MBNL1 PRAD Amp 1.833546 0.061734 0.441979 0.148374
ENSG00000152601 MBNL1 UCEC Amp 3.682834 0.162157 0.650473 0.231911
ENSG00000152601 MBNL1 OV Amp 19.912719 0.694732 0.866233 0.687392