HsaEX6080530 @ hg38
Exon Skipping
Gene
ENSG00000029534 | ANK1
Description
ankyrin 1 [Source:HGNC Symbol;Acc:HGNC:492]
Coordinates
chr8:41714156-41715849:-
Coord C1 exon
chr8:41715652-41715849
Coord A exon
chr8:41714976-41715074
Coord C2 exon
chr8:41714156-41714254
Length
99 bp
Sequences
Splice sites
3' ss Seq
GACAGCCTGTTTCTCCTCAGAAA
3' ss Score
8.21
5' ss Seq
AAAGTGAGT
5' ss Score
8.4
Exon sequences
Seq C1 exon
GATGACCAGACCCCACTTCACTGTGCAGCTCGCATCGGCCACACAAACATGGTGAAGCTCCTGCTGGAAAATAACGCCAACCCCAACCTGGCCACCACCGCCGGGCACACCCCCCTGCACATTGCAGCCCGTGAGGGCCATGTGGAAACAGTCCTGGCCCTTCTGGAAAAGGAAGCATCCCAGGCCTGCATGACCAAG
Seq A exon
AAAGGATTTACCCCTCTGCACGTGGCGGCCAAGTACGGGAAGGTGCGGGTGGCAGAGCTGCTGCTGGAGCGGGACGCACACCCGAATGCTGCCGGAAAA
Seq C2 exon
AATGGCCTGACCCCCCTGCACGTGGCCGTCCATCACAACAACCTGGACATCGTCAAGCTGCTGCTTCCCCGGGGCGGCTCCCCGCACAGCCCTGCCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000029534-'28-33,'28-31,29-33=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.273 A=0.182 C2=0.242
Domain overlap (PFAM):
C1:
PF0002325=Ank=WD(100=50.0),PF0002325=Ank=WD(100=48.5),PF127962=Ank_2=PU(8.3=9.1)
A:
PF127962=Ank_2=FE(44.4=100)
C2:
PF127962=Ank_2=PD(43.1=93.9),PF127962=Ank_2=PU(8.3=18.2)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AATAACGCCAACCCCAACCTG
R:
TCCAGGTTGTTGTGATGGACG
Band lengths:
176-275
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains