HsaINT0015318 @ hg38
Intron Retention
Gene
ENSG00000124406 | ATP8A1
Description
ATPase phospholipid transporting 8A1 [Source:HGNC Symbol;Acc:HGNC:13531]
Coordinates
chr4:42451981-42455419:-
Coord C1 exon
chr4:42455297-42455419
Coord A exon
chr4:42452060-42455296
Coord C2 exon
chr4:42451981-42452059
Length
3237 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
3' ss Seq
GGATTTTTGTTTTCCCTCAGGTT
3' ss Score
10.27
Exon sequences
Seq C1 exon
ATGTTTACAGCAATGCCTCCTTTAACTCTTGGAATATTTGAGAGATCATGCAGAAAAGAGAACATGTTGAAGTACCCTGAATTATACAAAACATCTCAGAATGCCCTGGACTTCAACACCAAG
Seq A exon
GTAGGACACAGTGCCCTGGCTGGGACATGTTTGGTGGGTCTGTGTTTACTGCCCTCATTATATGGGGTATGTGGTTTTCAAAGGCCAAGGATACACTAGCCTGAGACAACTCCAGGGTACCGACTATGGCAAGTCATATTTCTTAAGGTTCTGATACAGGCAGAGAAGGTTTTTTGTTGGTTGGTTGAGTTTGGGGTTTTTTGTGTGTTTTATTATTAAAATGTAACCAAATTCACTTGGGTTTGTAAGGCAGCAATAAAGCTGGCCTGACGTATAAAAATCATTGTCCTTTTGGTTCTCTGGCCTTCTGTCTTTGCAGTGTTGTGGTGACATGCTCACTCCTCACAGGGGTTAGTCATCTAGGACTGGTAAGGACTGGCTTTATGTGTGTAAAGGAGTGAGAGAGGTATTTTATTGTTCCTTAACTGATTTTCCATTTTGTGAAATAACTTTGTCCTCATTAGAATTTTAGATTGATTGTGTCAGGCATTAAAATTACAGTCTCTGGGAAATAGTACTCAGTATTTCCAAGCTCTAAAATTAAAAATACAAGATAAAATATCCAACAGTTTATCTAAAATCACATTCTGGGTGTGATCCAATAGTATTTATCCCAGACACACACACACACACACCTCATTTTCTATATAGTTTACTTTCCTGCAAGTATATATTCTAAAGTGTTTCCATTGGTATTTGTTAATAATTCAATTTCTTGTTTAATGTGAGTGAGGAGGAAAAAATTTAATATTACAACAATCAAGTTAGGTGTCATTTTGAAACTAACATTTGTATATTAGTGTTATGAAAGCAACAAATAAAATACACTTTCACAGAATTGTTTTTGTTTAATATAGTGCATGTTTATTAGCATGTTACTGATAATTAGATGTAACCTTAACTCAGAATCTTGAATTCAGGACAGTTAATGTAGGATATTTTAAATATTTAGGAATTCATAAAGCTTTTCAATGGCATTTTCCATATGCCAAGAGAATAAAGTGAAACAGGTGTTTTGGTGCCTCTAACCTCACAGCATAAACGATAGTGCTAGGTTTATGGGCAAGACATTATTCTTCTGAGACGTGATCTTCACGAACACAGCGTGCCTATGTATCCAGCTGTACACATGCATACAACTTGGTGGCACTGTTTTAAATAAATGAATTTGGTTAGCTCAGGACAGACAGACTGAAGGATTCTTTAACTTATGCCATTGGTTCTGAAAAGTATTTTTAGTGGACTCTCTTAAAACTAATACTATTAATGTGCAGTTATCTCTGCTTTCATTTTTAAATCTTTTACTTCTAGATTTTTAAATTTATTTGTGATGCCCAGTTTGTATTAAATTTCATCACATTGCTGTAATGTTTTTCATTACCTATGGTGAGCATTCACAAATGATGGCAAGCCACAATCAGACTATGGCCTCTGGTTCCCCTGAAAAAGTGATCTGAGAGCTGGGGAAGTTCCAGGTCTACTGGTTGGTATACTAACAATAATTCTCACCAACCAACCTCAGCCACAGGCCTCGTCTACCATAGTGTGGGCTCCATGGTACTGTCTCTGAATTTAGCCTCTAACCACAAATTTGGCCATGCCATTCTTGCTTAAAAACATAAATTGATCCTCACAGAATTACCCCAAATCATTCCTGCAAAGGCACATTCTTCTGTACATGGCAACTTGGACACATTTTTGTGGCCAGGAAAAGGGTATAGCGGGTAGTATATTGTTTTAATGTGGGAGCATCATTCCTCGTATCTTTTATTGTTGAAAAAAGTCTTTTCATTATCTGTAGAGCCCAGGAGTTCAGACAAGTCATCAGATCAACCCAAATGGGTTATACAATTTCTATACCCATTTGAGTGTTTATAGTTTTTATACACGAGTTGCCAACCCTGTTTTACAGGGTTTATGGATTTTTCTAGTGATTTCAGTGAAAAGTATTTGATTCAATCTCATATAAGTGTTTGAAAATTCAGGGACAAATGGCTACAAAATGCACAGTTGTATACACAGCAGTTGCTGGGGGTTCCAAGTGCGGGAGCATTGTTGCCCTGAATGATGATGCTTATGTTTGTTATGGTAAAAAGGGTCGGAGGTTCTGAGGTCGTGACAGGGGTTAAAGGATTAGCATGTGACAATAAGTATCAGTCAGGAAAATGGAAAAGTAGAACTAATTTTTCTTGCACCCACCTGTGCTTTCTGTCAAATAAAAACTTGTGGTAATGACACAGTGAGGAGAAGAGACAAAGGTTAATGAGTAACACAAGTTCAAATGTGTAATGTATTGGAGCGTAAATTGGATCATACAATCCAGTGTGGCTGGGAGAACTAACAAAAGAGATTGAGCTCACAGTGGAAAATTTTGGGAGGCAGGCAACTTAATTTCTGTTGTTTGAACAGCTTAAAACTATTAATACATGCCAGTTTTATTTAGCATAAGTTTTGTTTGCAAGAAGCACTTTTAAATGACAAAACTACAACTGTTCAGAGGGGCCATAAGAATTCTAAACAGTTTTTCTATAACTTAATCTTTCACATCCATGTTACAAAGAAAGTACCAGTGACGCTTGCTCTCTTGTTCTTAAAATACAATAGATATAAAAAGTAGTAACTATTATATGATGTTATAATTATACAAAACTTGGTATTAACACTGTTAAATTGTGAAAGCCTTTAGTAAAGTCATAGTCACAGTGCTTTATTTGTATGATTATATAATACTGGCTATAACGAGTATATATCTTGATACCCTGCAGAGAATAGTATAGAGTATCTTTATATCTCTTGATAAGAGAAAGCATTACATCTTTAGCATTGGAAAGCTTACAGTTATATGTGGGGAATATAAAGGGATTTCCCCAAATTATAATCTTTTAAAAGTCTATTCTTCTGGAATTATGAAAATAGTCCCACTTAAGGAATTTCAGAATTCTGCATTTTTTTATTTTAAATTTTATTTTCTTTTTCAGGCAGAAATTTAAATTTGGTTTTTGAGAAGCAGAAAAAAAAATTCAAGTGAAGCTGAAAAAACATTTTGAGAAACATAAAAATAAATAAATGACCCATGAAAGTCTAAGAGGCAGAAAGTGTCTGTCAGTTCTATTAATTCACAGTGGTGGCCCGACAGAAACACATTTTGTGAATCTAGCTCATAGATAAAAAGAAAGGTCAGAGTTCACAGAGCTAGTTTATCGCAAATGGTTCTCATGGATTTTTGTTTTCCCTCAG
Seq C2 exon
GTTTTCTGGGTTCATTGTTTAAATGGCCTCTTCCACTCAGTTATTCTGTTTTGGTTTCCACTAAAAGCCCTTCAGTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406:ENST00000381668:29
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
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
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
- Autistic and control brains
- Pre-implantation embryo development