HsaINT0015300 @ hg38
Intron Retention
Gene
ENSG00000124406 | ATP8A1
Description
ATPase phospholipid transporting 8A1 [Source:HGNC Symbol;Acc:HGNC:13531]
Coordinates
chr4:42578260-42579978:-
Coord C1 exon
chr4:42579813-42579978
Coord A exon
chr4:42578388-42579812
Coord C2 exon
chr4:42578260-42578387
Length
1425 bp
Sequences
Splice sites
5' ss Seq
ACTGTAAGC
5' ss Score
4.95
3' ss Seq
CTTCCTGCCTCTCCCAACAGATG
3' ss Score
13.29
Exon sequences
Seq C1 exon
AATTCAACAAGTCCACCACTTAAGCTCTCAAATGTGGAACGGATTACAAATGTACAAATTTTGATTTTATTTTGTATCTTAATTGCCATGTCTCTTGTCTGTTCTGTGGGCTCAGCCATTTGGAATCGAAGGCATTCTGGAAAAGACTGGTATCTCAATCTAAACT
Seq A exon
GTAAGCAATAAAGTGCTTACTGCACTTTTTTAGATTAAGACATGTATTTGTTTCACAATTGATCTTGATTTACTTTATTTCGTATTGTTTCTAAAAAGACCTTGTTGCCAAGATAGCTGGACATTTGATCTTTATTTTTCAGTGAGATTTCTAGCAAGTGTAAGTAAAATTTGGGAATCCTAAAATTTCAGAATCCTTAAAAACATAATGAGCACTCTATAGTGGTATAAAATGTTCACTAAGTATAGTCATTTATTATATATATCAACGAAAACTATTCCTTAAAAATATTTTTAACATAGGTGGTTAACTATATGGTAAAGAAAGTAGATTGACCATGTGTGGATATAACAAAACATATATATTTAAATATATATTGTATGTATTTATAAATATATAAAATATTTTAAATATATTTAAATAATATAAATATTTAAATATATTTTATCTTAAATAAAATATACTTTGTTTATATTTTATTTAAATAAAAGTACCAAAAAGTGGTTTATATGGTTTAAAAATGTTTAAACCCAATGTATTTTCATTTGAACTCAGTAATGTGGTAAGTCCTATATTAAATGTTATCTTAGAGAAGGTGCTAGTAAATAGTTTTCCTTTAGAGCATTTATCCTTTTATTATTGTGATATTAATGTACCACCCCTGGATATTTCTGTCAAATGAGTTTACATTTTCATTTCATGAGTACTTAGCCAATAAAGACTTAACTTCCAAAAGTGTGAAAGCAAATTCTAGTACAATCACATAGCAAAAACTGGTATTTTTAAATTTTTTTTATTATATTGATTTATCTTTGCAGCAATTCCAAGTTGTTTTTATAGTTACTGATTTATTATTTCAGTATCAGAACTGTTACTACCATCAGTCTGTTTCTTTGTATACTTTATAATTGTATCTGGTATAGCAGTTTTATTTTCATTTTGAGGAAGAAGAGTATAATGTACCTAGGAGAATAATTTACCTAGGACTGAATATTACTCATATAGTTTGGATTGTTTTTGCTGCTGCTGTCTTGTTTGCTTTTAAAGTATGCTTTAAATTGGAAATACTCTTAAGAATTTATATAAAAGTGATTCTACCCAATTGAGATTTTATATTTATAAACCCTCAGTGCTATCCCTGATGTCTCTAAACTTTGTGTTTGGAAGAGGGTTTGCAATATTTGACAGTCCTTTCACTGTCTTAGTACTTTTATACAGCTCTTACCTGGATTAACAACATATTGAACACAATGCAATTCTATCTTGAAGGATGTACTTGAGAATTAGGATAGATTATCAGCAAAGTGTTCCTCCCAAATTATCAAATAAGCTGCGTAGTATGGAAAACTTGTATTATGCTAATTTGGGGTCAATGCAAATAAAATATAAAACTGTAAATGACGTTCTTCCTGCCTCTCCCAACAG
Seq C2 exon
ATGGTGGCGCTAGTAATTTTGGACTGAATTTCTTGACCTTCATCATCCTTTTCAACAATCTCATTCCTATCAGCTTATTGGTTACATTAGAAGTTGTGAAATTTACCCAGGCATACTTCATAAATTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406:ENST00000381668:11
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:
PF0012215=E1-E2_ATPase=FE(20.2=100)
A:
NA
C2:
PF0012215=E1-E2_ATPase=PD(15.1=95.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AATTCAACAAGTCCACCACTTAAGC
R:
CCAATTTATGAAGTATGCCTGGGT
Band lengths:
294-1719
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