Special

HsaINT0008060 @ hg38

Intron Retention

Gene
Description
ankyrin 1 [Source:HGNC Symbol;Acc:HGNC:492]
Coordinates
chr8:41688156-41688589:-
Coord C1 exon
chr8:41688511-41688589
Coord A exon
chr8:41688231-41688510
Coord C2 exon
chr8:41688156-41688230
Length
280 bp
Sequences
Splice sites
5' ss Seq
CAGGTACGG
5' ss Score
10.88
3' ss Seq
AATCTAATGCTTCTCCCCAGGTT
3' ss Score
8.31
Exon sequences
Seq C1 exon
GGAAGTGGAGCCGAAGATAGGAGAAGGACCCCGACGCCCCTGGCCCTGCGATACAGCATTCTCAGTGAGTCCACACCAG
Seq A exon
GTACGGCCTCTGTGTGATGATGCATGCTTGCTCCCTTCCCAAGAAGGGTGGGCGTGAGCTCATCTCCCCGCAGCCCTGTGAGGGTTCTGCTGAGGTGCCGCTCGCTCAGCCAGTTCCAAAAGCAGCTGCAGAGCTGACTCGGGTCTTCCCCTGATCTTGCAGAGAGTCTAGACAATCACCCCAGTGCACACGGAAGCCACATCCATCACAGGCCGTGTCCTCAGGCCTGTCAACTGTGTCCTGCCCTGGCTACTAAATGAAATCTAATGCTTCTCCCCAG
Seq C2 exon
GTTCTCTCAGTGGGACAGAGCAGGCAGAGATGAAGATGGCTGTTATCTCAGAGCACCTCGGTCTCAGCTGGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000029534:ENST00000347528:34
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.377 A=NA C2=0.413
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0053117=Death=PU(19.0=61.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAAGTGGAGCCGAAGATAGG
R:
AGCTGAGACCGAGGTGCTC
Band lengths:
148-428
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development