HsaEX6080548 @ hg38
Exon Skipping
Gene
ENSG00000029534 | ANK1
Description
ankyrin 1 [Source:HGNC Symbol;Acc:HGNC:492]
Coordinates
chr8:41668267-41688589:-
Coord C1 exon
chr8:41688511-41688589
Coord A exon
chr8:41688156-41688230
Coord C2 exon
chr8:41668267-41668564
Length
75 bp
Sequences
Splice sites
3' ss Seq
AATCTAATGCTTCTCCCCAGGTT
3' ss Score
8.31
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GGAAGTGGAGCCGAAGATAGGAGAAGGACCCCGACGCCCCTGGCCCTGCGATACAGCATTCTCAGTGAGTCCACACCAG
Seq A exon
GTTCTCTCAGTGGGACAGAGCAGGCAGAGATGAAGATGGCTGTTATCTCAGAGCACCTCGGTCTCAGCTGGGCAG
Seq C2 exon
ACTGCAGGACTGGGATGCAGACGGCTCGATTGTCTCATACCTGCAAGATGCTGCACAAGGTTCCTGGCAAGAGGAGGTCACGCAAGGTCCACACTCATTCCAGGGAACAAGTACCATGACTGAAGGGCTAGAGCCCGGTGGATCTCAGGAGTACGAGAAGGTCCTGGTGTCTGTAAGTGAGCACACGTGGACAGAACAGCCCGAGGCTGAGAGCTCCCAGGCCGACAGGGACCGGAGGCAGCAAGGCCAAGAAGAGCAGGTGCAGGAGGCCAAGAACACCTTCACCCAAGTGGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000029534_MULTIEX2-1/7=C1-C2
Average complexity
C2
Mappability confidence:
89%=100=89%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.377 A=0.413 C2=0.988
Domain overlap (PFAM):
C1:
NO
A:
PF0053117=Death=PU(19.0=61.5)
C2:
NO
Main Inclusion Isoform:
ENST00000265709fB9294
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATAGGAGAAGGACCCCGACG
R:
TCCCTGGAATGAGTGTGGACC
Band lengths:
170-245
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains