HsaEX0038117 @ hg38
Exon Skipping
Gene
ENSG00000152601 | MBNL1
Description
muscleblind like splicing regulator 1 [Source:HGNC Symbol;Acc:HGNC:6923]
Coordinates
chr3:152456267-152459345:+
Coord C1 exon
chr3:152456267-152456361
Coord A exon
chr3:152458130-152458193
Coord C2 exon
chr3:152459271-152459345
Length
64 bp
Sequences
Splice sites
3' ss Seq
TCCTTGGTATGTTTCGACAGCCC
3' ss Score
6.16
5' ss Seq
ATGGTATGA
5' ss Score
6.56
Exon sequences
Seq C1 exon
TTCCCATGGTGCACGGTGCTACGCCAGCCACTGTGTCCGCAGCAACAACATCTGCCACAAGTGTTCCCTTCGCTGCAACAGCCACAGCCAACCAG
Seq A exon
CCCCATCCTTGATGCTTCTACACTGTTGGGTGCAACATCCTGTCCTGCAGCAGCAGGAAAAATG
Seq C2 exon
ATACCCATAATATCTGCCGAACATCTGACTAGCCACAAGTATGTTACCCAGATGTAGAATTTTCATCACTAAACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152601-'66-74,'66-73,67-74
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (disopred):
C1=0.627 A=0.636 C2=0.184
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCATGGTGCACGGTGCTAC
R:
ACTTGTGGCTAGTCAGATGTTCG
Band lengths:
132-196
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