HsaEX0038123 @ hg19
Exon Skipping
Gene
ENSG00000076770 | MBNL3
Description
muscleblind-like splicing regulator 3 [Source:HGNC Symbol;Acc:20564]
Coordinates
chrX:131540256-131573705:-
Coord C1 exon
chrX:131573463-131573705
Coord A exon
chrX:131571927-131571971
Coord C2 exon
chrX:131540256-131540420
Length
45 bp
Sequences
Splice sites
3' ss Seq
TTTTTTGTTTTTTTTTGCAGACC
3' ss Score
12.31
5' ss Seq
AAGGTAATT
5' ss Score
8.83
Exon sequences
Seq C1 exon
TCCTTTAATAGTCCACAGTAATATTGTCCTAAAGAGGGTACATTGGATTTTAATTTTGCTTTCAATATGACGGCTGTCAATGTTGCCCTGATTCGTGATACCAAGTGGCTGACTTTAGAAGTCTGTAGAGAATTTCAGAGAGGAACTTGCTCTCGAGCTGATGCAGATTGCAAGTTTGCCCATCCACCAAGAGTTTGCCATGTGGAAAATGGTCGTGTGGTGGCCTGTTTTGATTCTCTAAAG
Seq A exon
ACCATTCCATTTTAAGAATAGAAACTTGTTATTGTAAAGATAAAG
Seq C2 exon
GGTCGGTGTACCCGAGAGAACTGCAAGTACCTTCACCCTCCTCCACACTTAAAAACGCAGCTGGAGATTAATGGGCGGAACAATCTGATTCAACAGAAGACTGCCGCAGCCATGTTCGCCCAGCAGATGCAGCTTATGCTCCAAAACGCTCAAATGTCATCACTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000076770-'2-7,'2-4,3-7
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (disopred):
C1=0.169 A=0.000 C2=0.389
Domain overlap (PFAM):
C1:
PF0064219=zf-CCCH=WD(100=42.4)
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
GTTTGCCCATCCACCAAGAGT
R:
CCGCCCATTAATCTCCAGCTG
Band lengths:
148-193
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
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)