HsaEX6080540 @ hg38
Exon Skipping
Gene
ENSG00000029534 | ANK1
Description
ankyrin 1 [Source:HGNC Symbol;Acc:HGNC:492]
Coordinates
chr8:41695177-41696773:-
Coord C1 exon
chr8:41696676-41696773
Coord A exon
chr8:41696363-41696587
Coord C2 exon
chr8:41695177-41695331
Length
225 bp
Sequences
Splice sites
3' ss Seq
TGCATCTGCCCCACTCCTAGGTT
3' ss Score
7.45
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
Exon sequences
Seq C1 exon
GCATCTAAAGAGTATGATGAGGACTCCCTCATCCCCAGCAGCCCGGCCACCGAGACCTCAGACAACATCAGCCCGGTGGCCAGCCCGGTGCATACAGG
Seq A exon
GTTTCTGGTGAGCTTCATGGTTGACGCCCGGGGTGGTTCCATGAGAGGAAGTCGCCACAACGGCCTGCGAGTGGTGATCCCGCCACGGACGTGCGCAGCGCCCACCCGCATCACCTGCCGCCTGGTCAAGCCCCAGAAGCTCAGCACGCCGCCCCCACTGGCCGAGGAGGAGGGCCTGGCCAGCAGGATCATAGCACTGGGGCCCACGGGGGCACAGTTCCTGAG
Seq C2 exon
CCCTGTAATCGTGGAGATCCCGCACTTTGCCTCCCATGGCCGTGGAGACCGCGAGCTCGTGGTTCTGAGGAGCGAAAACGGCTCCGTGTGGAAGGAGCACAGGAGCCGCTATGGAGAGAGCTACCTGGATCAGATCCTCAACGGGATGGACGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000029534-'44-55,'44-54,45-55=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.739 A=0.184 C2=0.000
Domain overlap (PFAM):
C1:
PF0079115=ZU5=PU(1.0=3.0)
A:
PF0079115=ZU5=FE(71.4=100)
C2:
PF0079115=ZU5=PD(26.7=52.8)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GCATCTAAAGAGTATGATGAGGACT
R:
TTCGTCCATCCCGTTGAGGAT
Band lengths:
252-477
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains