HsaINT0000861 @ hg38
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68929561-68932514:-
Coord C1 exon
chr17:68932288-68932514
Coord A exon
chr17:68929703-68932287
Coord C2 exon
chr17:68929561-68929702
Length
2585 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
3' ss Seq
ACATTTTGTTTCCACATTAGGCT
3' ss Score
6.77
Exon sequences
Seq C1 exon
ATCACAACAAATCACTCAGTGATGGAGGAGCTGATGTCAGTTACTGGAAAAAATATGAAGATGCATTCCTTCATTGGTCAATCAGGAGTTATAACTGATTTGTACCTTTTTTCCTGCATTATTTCATTTTCCTCATTCATTTACTATGCATCTGTTAATGTCACAAGAGAGAGGAAAAGGATGAAGGCCTTGATGACAATGATGGGTCTTCGGGATTCAGCGTTCTG
Seq A exon
GTGAGTCAAACGCAGCACAAATAAATAAACGGAGGAACTCAGGAAAACTGGGAATCTTCAATGCATCTTTTTTTTTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGACTGCAGGTGCCGACCACCATGCCTGGATAATTTTTTGTATTTTCTGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGCGAGCCACCACGCCCGGCCTCTTCAATGCGTCTTTATTAAAACCTGTTTCTCCACAACCAAGGGGTACAAATGAGAGATACCTACACAGAATAATTTCAGATCATGAACAAATTTCCACTTAGTTAATTTCAGTGGGGAGAAATGCTCTGCAGTGATGGACAAAAAAAAAAAAAAAAAAAAAAAAAGGAAATGTATTTTGCTTCTGGAAATTTTACAGGACTAAGTAGAGAGGCTGGTCATTTAATATATTTAACAATCTCTGACCCAATTTTATCTAAATCTATTTCAGATTCACTGTACTGTGAAGGAACTGCTATAGGAAATAAGATAAAAGGGGACAGAATGTGCTAACATTTAAGAAAATACAACTTCCATTACGAATAATATTGACTTTTTTAGAAAGGAGGAAGATAATCTTTTAAAGAAACATAAAAAGTAAATAAAAAAACTTTGAGAAAACAAATAAGGAGCCAAATGCAGAATTTTACAGAAAAAATAATGTCACAACTATCACACATCAATGTCCATTTAAAAAAATGTGTTGCCATGAATAAGAAAATGCCACTTTTAAACATTCTTTAGTAACAAGGAAAGAAATATAAAAATCCTTTATCCCCATGAATGGTATAAACTGTCATTGGTGTAATGTTTGCCAGGCTGAGGCTGCGTCTTACTGTGCTTCTCTGAGTTAAGGAAGAAGATTGGGGTTAGGTTATTGGTTGATTGTGAAGAAGGTGTAATGAGGAATGGCCATGGCAAGAGAGGCGTAAACAAGATAGACAATGGTGTCTGTGCCAGACAGAGGTGAGATGTGAGCTAGGAGGGGATTGAAAGGGAAAAAGAAGCCGAGGACCAGGAACTCCTTTGAGACTGAGGAACATGCTTGGTGTGCCTGAGGGAATGAGCTGGCAAAACAGGATGGTGAATAGGGGCTGGGTAGTGTGGGTTTAAAATGTCAGAGGTTGGGTGATTCCAAGAATGGACAAGGTTCTGTGTGAGAACTTATGAATAATTGACTGAAAGAGCATGGAGGTGATGTTTACAGGGAGTAGGACATTAAATAACAGAGAGGCTAGGGAGGCAGATGGGCTGTGCATAGGGCAACAAATTAGGAGTCTGGAAGAGTTCCTTCCAGTATTAACATCTTATACATCAATATTGACCTCTTGTTTGAATTAATACTGGAGGGAAACGTAGCAGAGCAGTGAAATCTAAAGACTATAGAGCCAAAACCCCTGAACTTGAAACATAGTTACATAACACCCTTGTTCATTAGGTTCTCTATCAATAAGATGAGGAAAATAATGGTATTCTGAATAGGGCTATTGGGAGAATAAAATGCTTTAATGTTTGCTAAGTTTTCTTCAATGCATATTAATTGCTATGTGTGTGAGTTATTATTGTGTTGGCTTTGCAGCTGTTTTGTTTTTGTTTTTTAAAATTATTATTTCATTATAGTTTTCAAAGAATATTGTAAAACAAAAGAAAAGAAATTGATGAGGAAAGGAAAGTGAATTATTCTGACATAAAAGAATGGGATTCAAAAAAAATCTTTCTTAACAAAAACAATGAACGGAACTAAAGGCAAGTATGTAGACTTTTCAGTGAACACATCCAGAGAAAGATGACAACAGCTTTTGGGGAAGGAGTGACATGACCAAATTACACATAAGGAAGAATTTCTTGTCTCTGAGGAAGCTTGTGATGGTCCTGAACTTGGAGAGACTCCAGAGAGGAGAGAAGGGTCTGAGGTTCACTGAGGGGCTACCCTGTATTAAGACAGTGCCCTACATAGCCATCATCTTATTTAGTCTTCAGTGGTAGTATTATTCCTGGTGTCCAGAGAAATAAAGGAATAATAGAGGGGTTACAGAGGTTGCCCAAGGTTACAGAGCAAGAATGCAGCAAATAAAATGTTCGATCCAAAATCTATTACACTGGAAACCTAATTCCCCCCCCACCGCCCCCACCCCCCAGAACAATGTGCATGTGTGTGTGAATGTATTTCTGAAATCAATTTTAGGAAAAACAATTCCTAATTCCCAAAGAATATTCCTAATTCTAAAGAATTCTGCCCAAAACTTTTACCTTGTATTTATATATCTTAGAACACCCAATAAATAAATGTTGAAAGAGAGAATGAATGGATGAATAAGTGAATGAAGAGTTATCTTAGAATCCATTTCAGGTCTTCCTTTTCAAGTGAACATAAAATACTAAAATAACATTTTGTTTCCACATTAG
Seq C2 exon
GCTCTCCTGGGGTTTGCTCTATGCTGGTTTCATCTTCATTATGGCCCTTTTCTTGGCACTTGTTATAAGATCTACCCAGTTTATCATTTTGTCTGGCTTCATGGTAGTCTTCAGCCTCTTTCTCCTGTATGGATTATCTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338:ENST00000269080:6
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:
PF126982=ABC2_membrane_3=FE(19.2=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(12.0=100)
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:
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