HsaEX0038106 @ hg19
Exon Skipping
Gene
ENSG00000152601 | MBNL1
Description
muscleblind-like splicing regulator 1 [Source:HGNC Symbol;Acc:6923]
Coordinates
chr3:151985829-152132900:+
Coord C1 exon
chr3:151985829-151986881
Coord A exon
chr3:152017194-152018156
Coord C2 exon
chr3:152132730-152132900
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-'2-20,'2-10,8-20
Average complexity
C1
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=0.154 C2=0.681
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
PF0064219=zf-CCCH=PD(81.2=22.8)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)