HsaEX6080550 @ 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
chr8:41684544-41684690
Coord C2 exon
chr8:41668267-41668564
Length
147 bp
Sequences
Splice sites
3' ss Seq
TCTCTCTTCTGCGCCCACAGTGG
3' ss Score
8.91
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
Exon sequences
Seq C1 exon
GGAAGTGGAGCCGAAGATAGGAGAAGGACCCCGACGCCCCTGGCCCTGCGATACAGCATTCTCAGTGAGTCCACACCAG
Seq A exon
TGGAGAATCTGTACACAGCCCTGCAGAGCATTGACCGTGGCGAGATCGTGAACATGCTGGAGGGTTCCGGCCGACAGAGCCGCAACTTGAAGCCAGACAGGCGGCACACCGACCGCGACTACTCGCTGTCACCCTCCCAGATGAATG
Seq C2 exon
ACTGCAGGACTGGGATGCAGACGGCTCGATTGTCTCATACCTGCAAGATGCTGCACAAGGTTCCTGGCAAGAGGAGGTCACGCAAGGTCCACACTCATTCCAGGGAACAAGTACCATGACTGAAGGGCTAGAGCCCGGTGGATCTCAGGAGTACGAGAAGGTCCTGGTGTCTGTAAGTGAGCACACGTGGACAGAACAGCCCGAGGCTGAGAGCTCCCAGGCCGACAGGGACCGGAGGCAGCAAGGCCAAGAAGAGCAGGTGCAGGAGGCCAAGAACACCTTCACCCAAGTGGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000029534_MULTIEX2-3/7=C1-C2
Average complexity
C3
Mappability confidence:
86%=100=86%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.377 A=0.599 C2=0.988
Domain overlap (PFAM):
C1:
NO
A:
PF0053117=Death=PD(27.4=46.0)
C2:
NO

Main Skipping Isoform:
ENST00000265709fB9295

Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATAGGAGAAGGACCCCGACG
R:
GTCCACGTGTGCTCACTTACA
Band lengths:
256-403
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains