Name | Number of supported studies | Average coverage | |
---|---|---|---|
brain | 20 studies | 48% ± 21% | |
lung | 19 studies | 38% ± 21% | |
peripheral blood | 19 studies | 53% ± 14% | |
intestine | 9 studies | 22% ± 4% | |
liver | 7 studies | 41% ± 18% | |
eye | 7 studies | 34% ± 16% | |
heart | 6 studies | 55% ± 21% | |
kidney | 6 studies | 41% ± 9% | |
bone marrow | 4 studies | 52% ± 20% | |
uterus | 4 studies | 32% ± 6% | |
lymph node | 4 studies | 43% ± 10% | |
breast | 4 studies | 33% ± 8% | |
adipose | 4 studies | 56% ± 19% | |
skin | 3 studies | 35% ± 10% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
breast | 100% | 12054.23 | 459 / 459 | 100% | 48.06 | 1118 / 1118 |
lung | 100% | 12798.90 | 578 / 578 | 100% | 61.53 | 1155 / 1155 |
esophagus | 100% | 11693.67 | 1444 / 1445 | 100% | 75.34 | 183 / 183 |
uterus | 100% | 13271.24 | 170 / 170 | 100% | 49.45 | 457 / 459 |
ovary | 99% | 6581.88 | 179 / 180 | 100% | 26.72 | 430 / 430 |
intestine | 100% | 15237.70 | 966 / 966 | 99% | 39.06 | 524 / 527 |
bladder | 100% | 13881.10 | 21 / 21 | 99% | 37.78 | 501 / 504 |
prostate | 100% | 8311.67 | 244 / 245 | 100% | 40.19 | 501 / 502 |
thymus | 100% | 7341.87 | 650 / 653 | 100% | 41.31 | 603 / 605 |
adrenal gland | 99% | 5699.32 | 256 / 258 | 98% | 25.05 | 225 / 230 |
skin | 100% | 10483.26 | 1804 / 1809 | 93% | 40.77 | 437 / 472 |
stomach | 89% | 6775.19 | 321 / 359 | 99% | 47.37 | 282 / 286 |
kidney | 88% | 3607.74 | 78 / 89 | 99% | 48.16 | 893 / 901 |
brain | 82% | 3223.09 | 2163 / 2642 | 100% | 30.83 | 703 / 705 |
liver | 87% | 3107.98 | 196 / 226 | 94% | 21.35 | 382 / 406 |
pancreas | 58% | 1926.21 | 189 / 328 | 99% | 44.06 | 176 / 178 |
adipose | 100% | 15345.46 | 1204 / 1204 | 0% | 0 | 0 / 0 |
blood vessel | 100% | 29131.09 | 1335 / 1335 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 100% | 81.99 | 29 / 29 |
spleen | 100% | 9986.99 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 69.17 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 12.01 | 1 / 1 |
muscle | 100% | 18880.86 | 802 / 803 | 0% | 0 | 0 / 0 |
heart | 94% | 6587.38 | 808 / 861 | 0% | 0 | 0 / 0 |
peripheral blood | 85% | 10778.87 | 792 / 929 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 59% | 10.88 | 47 / 80 |
abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
GO_0043484 | Biological process | regulation of RNA splicing |
GO_0045445 | Biological process | myoblast differentiation |
GO_0008380 | Biological process | RNA splicing |
GO_0006397 | Biological process | mRNA processing |
GO_0030326 | Biological process | embryonic limb morphogenesis |
GO_0001701 | Biological process | in utero embryonic development |
GO_0007399 | Biological process | nervous system development |
GO_0005654 | Cellular component | nucleoplasm |
GO_0005829 | Cellular component | cytosol |
GO_0010494 | Cellular component | cytoplasmic stress granule |
GO_0005737 | Cellular component | cytoplasm |
GO_0005634 | Cellular component | nucleus |
GO_0001069 | Molecular function | regulatory region RNA binding |
GO_0005515 | Molecular function | protein binding |
GO_0046872 | Molecular function | metal ion binding |
GO_0003725 | Molecular function | double-stranded RNA binding |
GO_0003723 | Molecular function | RNA binding |
Gene name | MBNL1 |
Protein name | Muscleblind-like protein 1 (Triplet-expansion RNA-binding protein) MBNL1 protein (Muscleblind like splicing regulator 1) (Muscleblind-like (Drosophila), isoform CRA_f) Muscleblind like splicing regulator 1 |
Synonyms | MBNL KIAA0428 EXP hCG_28028 |
Description | FUNCTION: Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues. Together with RNA binding proteins RBPMS and RBFOX2, activates vascular smooth muscle cells alternative splicing events . Regulates NCOR2 alternative splicing (By similarity). . |
Accessions | C9J7P7 ENST00000282486.10 [Q9NR56-1] C9JP00 ENST00000498502.5 ENST00000464596.5 ENST00000465907.6 [Q9NR56-4] ENST00000460591.5 C9JCX1 ENST00000478535.1 ENST00000357472.7 [Q9NR56-6] ENST00000495875.6 ENST00000485910.5 [Q9NR56-3] Q86VM6 ENST00000492948.5 [Q9NR56-6] ENST00000493459.5 A0A0A0MQX8 ENST00000355460.6 [Q9NR56-2] ENST00000463374.5 [Q9NR56-1] ENST00000545754.5 [Q9NR56-4] ENST00000459747.1 ENST00000282488.11 H7C4T5 Q9NR56 ENST00000324196.9 [Q9NR56-7] ENST00000324210.10 [Q9NR56-5] C9J4T8 H7C4Y1 ENST00000485509.5 [Q9NR56-7] |