Special

HsaINT0015317 @ hg38

Intron Retention

Gene
ENSG00000124406 | ATP8A1
Description
ATPase phospholipid transporting 8A1 [Source:HGNC Symbol;Acc:HGNC:13531]
Coordinates
chr4:42455297-42455599:-
Coord C1 exon
chr4:42455525-42455599
Coord A exon
chr4:42455420-42455524
Coord C2 exon
chr4:42455297-42455419
Length
105 bp
Sequences
Splice sites
5' ss Seq
GTGGTAAGT
5' ss Score
10.36
3' ss Seq
GACCAGTTTGTGCGCTTTAGATG
3' ss Score
4.61
Exon sequences
Seq C1 exon
ATCTGGTTTGCCTTTGTTAATGGCTTTTCTGGACAGATCCTCTTTGAAAGATGGTGTATAGGTCTCTATAACGTG
Seq A exon
GTAAGTTTAGGACATTTGATAATTCCTGTTTCATTGAATACTTGGGAGATAAAGGTTCACCCTGCATTTGGCTGCTTGACATAATGACCAGTTTGTGCGCTTTAG
Seq C2 exon
ATGTTTACAGCAATGCCTCCTTTAACTCTTGGAATATTTGAGAGATCATGCAGAAAAGAGAACATGTTGAAGTACCCTGAATTATACAAAACATCTCAGAATGCCCTGGACTTCAACACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406:ENST00000381668:28
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTGGTTTGCCTTTGTTAATGG
R:
GGTGTTGAAGTCCAGGGCATT
Band lengths:
194-299
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development