HsaEX0038110 @ hg38
Exon Skipping
Gene
ENSG00000152601 | MBNL1
Description
muscleblind like splicing regulator 1 [Source:HGNC Symbol;Acc:HGNC:6923]
Coordinates
chr3:152244321-152300367:+
Coord C1 exon
chr3:152244321-152244440
Coord A exon
chr3:152269439-152269778
Coord C2 exon
chr3:152299405-152300367
Length
340 bp
Sequences
Splice sites
3' ss Seq
TGTACTCACAACTTAATGACCTT
3' ss Score
-20.82
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
Exon sequences
Seq C1 exon
AGGAAAAAAAATAATGTAACTAGAGAAGAGAGTTGAGCAGAGAACTGAGCTCTTTGAAGTGCTGGTAGTTTGTCTCAACCCATGAAGCAGCTTAACAAGCAACTATAACTAAGCATAGAG
Seq A exon
CTTTGTCGGGGGAAGGTGTGAGTCCCTCTGAGTCGAGCGGCGCGCGGGTCTTCCCGGCGGCTCCCGCATCCCTGGCCCCGGGGCTGCCATCCCGCCCGGTTTTCATCTGGGCCAAATATGTGCACGCAAAGGTTAATTCTCTGCTTGCTACCCATAAATTACGCATGACATGTTTAGCTGGGCTGCCTTATATGGAGAGTGCTGTATTTCAGGCCAGTTTGCCTTTTGCCAAGTTTACAGGGCGGAAGACGCCCTGTAGGAGAGGGCTGCCTCCTCCTTTTCTTCTTCTTCTTTTTTTTTTCATCGTTTTGTAGTGCGTCACTCAAAAACTGTAAGAAAA
Seq C2 exon
GTTGGTACTAAGAAGTGCCTTTCCTGACGTCTCTGCTGCTTGGAACCGCTTCTAGAGCAGTCTCTGCTTTTGCCTTGCTTGCTGCCAGCTAGACTGTGACGACAGCACATCCACCCTCCACCTCTAGCCCAGACACCCCCATTTCTACTTATAATCAAGAGAAAAGCTCTAAGTATCTGGCATTGCCCTAGGCTGCTTTAGTGTTAAAAGAAAAGTTTGCTGAAAAAGTAAGATATCTTCTGCCAGGAAATCAAGGAGGAAAAAAAAAATCATTTTCTCGATTTTGCTCTAAACTGCTGCATCTGTCTATGCCAAACTAATCAATACCGATTGCACCACCAAACTCCATTGCAAATTCAGCTGTGAGGAGATTCCCTTTCAGACAACTTTGCTGAAAGCAGCTTGGAAATTCGGTGTCGAAGGGTCTGCCACGTTTTCATGCTTGCATTTTGGGCTCCAAATTGGCACTGGGAAGGGGTTACTGAGAGCACAAGGCTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152601_MULTIEX1-1/7=C1-2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (disopred):
C1=NA A=NA C2=0.151
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTCTCAACCCATGAAGCAGC
R:
ACAGATGCAGCAGTTTAGAGCA
Band lengths:
356-696
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development