HsaINT0015330 @ hg38
Intron Retention
Gene
ENSG00000124406 | ATP8A1
Description
ATPase phospholipid transporting 8A1 [Source:HGNC Symbol;Acc:HGNC:13531]
Coordinates
chr4:42588260-42590884:-
Coord C1 exon
chr4:42590811-42590884
Coord A exon
chr4:42588330-42590810
Coord C2 exon
chr4:42588260-42588329
Length
2481 bp
Sequences
Splice sites
5' ss Seq
AAGGTTAGA
5' ss Score
6.12
3' ss Seq
TTCTCAACTCCAAACTACAGTGA
3' ss Score
2.28
Exon sequences
Seq C1 exon
GTGGCAGTAGGGGAGATAGTGAAAGTGACCAATGGGGAACATCTCCCAGCAGATCTCATCAGTCTGTCCTCAAG
Seq A exon
GTTAGAACCACTGAGTCGTATAGGATGCGTGTATGTGGGTCCTCACCGTAAACCGGAGAACAGTTGCACCCAAATATGGTTGAGTTCTGTGTCTCTTCCTTTAAAACACAAACTTTTTATACTGCTTGGTGATGGACATTTCACAGATGTTTTAAAGGGATTTTTGAATACTATGTTGACTGATGCTTGTCCTTCAGCTGGGCAAATTGAACTCCTGTTGTTATCAATAGGAGTCTAAGAGGCATGACAGTAAAGGTAGATTTTAATTTCCTGTGCACCATTAATATATATTCGTATTTAATAACATGCCTAAGTACTAAGGCTTAATTTATTATCTCTCCGGGATATTATTTTGAATAATGTTAAGCTTTTCATGAAACAGTCATTGAAAATTGATTAGATTATAAACATGTCTTATTCTTGTATTTTAAATTTTTCTGTAAGTTCTGTAAAATCCTTCCAGCGATTGTGACTATAATTTGGGCTCATAGGGTTTATAGAGGACCCCCTGCACAAAGCTGGATGTTGCACATTTTGTACCGCATGCTTTGGGATCGACTTTTATCCCACTTGTATCTAGTGACAAAGTGCACGTTACTGTGATCAATTTCAGCTGTCTACTAGTGACTGTATTGTGATATGCATCTTGTTTCATTTTTCACTTACTAATCAAAAAGCCTGCTTTGCCTCTCTTGACTAGTTTGTGTTTTAGATGTCATCATAATTTGCTGAAATATTTATGATCTAGCATGATTCCTTATCTGAGACTTCTTGCTGCCTTTTCACAGCACTATTAAGAATTGCTTCAGTAACTGCTGTCCTAAGTGATTGTTGAGAATGTTCTGAATTTCGATGCTTATTTTATTACCCCAACTTCAAATAGAACTTAGCCATTTGAACTTCCTAACTTCCTAGCCATTTAAAGACCTAGATAAGTTACTTTATGCAAAAAAAAAAAGTAGAATTAGAATATTATTCTAATTGTCAGAATATGGAATCAACATTGTCATTTAGTATTTTCTTTGTCATCGTGCTTCTATATTATCAGGTGTGTTTTATAAATTCATAAACTATGTTTCAAATGTATACATAAGTAAATTACAAATTTCGAGCAATTTCCAGAGCCAAATTGCTATTGTGACAGTGATTTTAAAAATAAAATTTTGAATAAGTTATAGAGTGAAAATATAAATATTGAAGGACTTAATTTTGGGGAAAAGTAGCAGCTTTTACGAAAGAAAGCTCATAGGGTAAATTGAAGAACCTGCAGAGCTACTTTAAAATGAATCAGTAAAATATTTTTGATTAATGTCTATGTGTTTAAGCAATTTTCACAAATCTTCGGGCCACAAAATTAAGCTACATGCCCATTTCTGAAACTAGGAATAGTCTGTTTTGCACATGTACAAGTTGGAAGTTGATTAGAAAATTCCAGGTGTTTGTAATTTGTAAATTTTTTTCTTTCTAGCTTTGAGTACACATGCTTATAAGAGATTACATTTATAATACTTATGTGATATTAGTAAATTAAGCCTATTATATAACCAAGCATTAATTAGATTAGAATGCTTTTCTTTAGAATTAAGGATCAGATTATACAGTTGGGCTACAAACTTAGATGTCTGTAGTTGCTGGGCAAGTCAAATCAGCATGTGAAAGGGAAAGATAAGACAGTCTGGGCTGTGGTGGTGTGATAAAACTGGAGAACATGGACCCCTTAGGCCAGCCGCCACACACCAGATTTTACTAAGACACACTGGTGGGGAACCCATGAAGTGCATCTTCTAGGTCAAGGAGCAATATGGCCTAGCTGACTGATTTTAGTTTTAGTTTTTACCGCTGTGAGAATCTCTCAAGCAACTTTAATAGGAGAGCAGGAGTGGAAAACATAGAGGGAGAAAGCTATATATCCGCTTTCATTGTAAAATTTGTTCATATTACTTTTTTTAAATAACCTTAAATTTAAATATTATGGTTTATGTGATCCTATTCATCATAGCTAAAAGGGTAGTAAATGCAGGTTTGTAGAACTAGCAATCTGGAATTTTCTCATCAACCACTTTCTTAACCAATTTACATGCGTGCCATGAGCATGAAATCTCATGTGGTGTTTTTGAGCTAAAGATAAATCCGGACACAAAACTGCTTTACATTTCAGATACAGTCTGTGTTGTGTCTATGTGGATGAACAATTTAAATATAATGTGCAAATCTATTCATTTGCATTATCTTGAAGACCATTACTGATTGTTGTCAGGAAATTGCTTTTGGGTCCTTCTGGCTGAAAAGCTAATCCGTGAGTTGTCATGCATGGGTTCTGCCTCACAGCATCTTGCTGTTAGAATGAAAATCATCAAGAAGCTAAGTAACTATTACTTTGTCTAGAACGAAAGGCTTTAGTGAGTCTGAGCATTTAAATAAGTTATTATTATGCTTTTCTTCCCGCACTAAATCTTTGTGCTTCTCAACTCCAAACTACAG
Seq C2 exon
TGAGCCCCAAGCCATGTGCTACATTGAAACATCCAACTTAGATGGTGAAACAAACTTGAAAATTAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406:ENST00000381668:7
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=0.062
Domain overlap (PFAM):
C1:
PF0012215=E1-E2_ATPase=FE(18.8=100)
A:
NA
C2:
PF0012215=E1-E2_ATPase=FE(18.0=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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