HsaEX0038106 @ hg38
Exon Skipping
Gene
ENSG00000152601 | MBNL1
Description
muscleblind like splicing regulator 1 [Source:HGNC Symbol;Acc:HGNC:6923]
Coordinates
chr3:152268040-152415111:+
Coord C1 exon
chr3:152268040-152269092
Coord A exon
chr3:152299405-152300367
Coord C2 exon
chr3:152414941-152415111
Length
963 bp
Sequences
Splice sites
3' ss Seq
CCTATCTCTTTTTTCTACAGGTT
3' ss Score
11.88
5' ss Seq
AAAGTGAGT
5' ss Score
8.4
Exon sequences
Seq C1 exon
GCTGAACGCATGAGATGGAAGATACCAACGGGAGGCCGAGGGGATCCACGGCGCCCGCGCGGGCTCCGGCTTCCTCCTGCTCTCGGCGCCGCTGGGCGACCGCCCATGACCCGCTCTTGCGGGCTCTGTCCGGTTGACAGGCGACCCTGTGGCCCGGGGAAGCGCGGGAGGGCGCCGGCGGAAAGTTGAAGAGCGTTTTTCTCGCCGCCGCGTGCATTAGGAGCTCGACGAGTCCGCCCTGGGCTTCCTGGTGGGGCTGGGCGGGCGGGGGAGGGGCCGCGCAGCAGCAGCGGAAGCCAGACCTCGGCGATAAGAGGCTGCACAGCGACATGCAACAGTCTTTTCACTGCAGCTGAATGAGTTGTGGCGCCCACAATGCTCCCATGACAAGGAGCTGACAAGTTCCATTTTCCGTCGCGGGCATCTTGGAATCATGACTCCCACAATGCCTTGGGCACTTGGTCGACAGTGGGGCCGCCTCTGAAAAAAAAATGTGAGAG
Seq A exon
GTTGGTACTAAGAAGTGCCTTTCCTGACGTCTCTGCTGCTTGGAACCGCTTCTAGAGCAGTCTCTGCTTTTGCCTTGCTTGCTGCCAGCTAGACTGTGACGACAGCACATCCACCCTCCACCTCTAGCCCAGACACCCCCATTTCTACTTATAATCAAGAGAAAAGCTCTAAGTATCTGGCATTGCCCTAGGCTGCTTTAGTGTTAAAAGAAAAGTTTGCTGAAAAAGTAAGATATCTTCTGCCAGGAAATCAAGGAGGAAAAAAAAAATCATTTTCTCGATTTTGCTCTAAACTGCTGCATCTGTCTATGCCAAACTAATCAATACCGATTGCACCACCAAACTCCATTGCAAATTCAGCTGTGAGGAGATTCCCTTTCAGACAACTTTGCTGAAAGCAGCTTGGAAATTCGGTGTCGAAGGGTCTGCCACGTTTTCATGCTTGCATTTTGGGCTCCAAATTGGCACTGGGAAGGGGTTACTGAGAGCACAAGGCTGATACCAGGCCCTACTTTTAAACGTTCATCTACTTACAATCCTAGTATTTCTCTAAAAACCAAAACCTCTTTGAATTAACAGTTTCATGCTGTGAATTTCTAGTGGGAGATCTTTTCCTTGATATTGACGACACAATTTTCCATGTACTTTTAAAGCAGGGAGTGGGGAAAAGTATTTTGAGGGGACATTTTCATCATCAGTTCAGCTTTTTTTTTTTGGTTGTTGCTCTTTTTTGGGGGGGTTGGGTTTGTTGGTTTCACTGAAACATTTAACTACCTGTAAAATCTAAACATGGCTGTTAGTGTCACACCAATTCGGGACACAAAATGGCTAACACTGGAAGTATGTAGAGAGTTCCAGAGGGGGACTTGCTCACGGCCAGACACGGAATGTAAATTTGCACATCCTTCGAAAAGCTGCCAAGTTGAAAATGGACGAGTAATCGCCTGCTTTGATTCATTGAAA
Seq C2 exon
GGCCGTTGCTCCAGGGAGAACTGCAAATATCTTCATCCACCCCCACATTTAAAAACGCAGTTGGAGATAAATGGACGCAATAACTTGATTCAGCAGAAGAACATGGCCATGTTGGCCCAGCAAATGCAACTAGCCAATGCCATGATGCCTGGTGCCCCATTACAACCCGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152601-'5-47,'5-20,18-47
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
Show PDB structure
Features
Disorder rate (disopred):
C1=NA A=0.151 C2=0.564
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
PF0064219=zf-CCCH=PU(7.7=3.5)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCGGAAAGTTGAAGAGCGTT
R:
ATTTGCAGTTCTCCCTGGAGC
Band lengths:
352-1315
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development