HsaINT1000132 @ hg38
Intron Retention
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69304669-69306954:-
Coord C1 exon
chr17:69306725-69306954
Coord A exon
chr17:69304811-69306724
Coord C2 exon
chr17:69304669-69304810
Length
1914 bp
Sequences
Splice sites
5' ss Seq
TTGGTATGT
5' ss Score
7.12
3' ss Seq
TATCTGTATTCTCATTTTAGGCT
3' ss Score
9.78
Exon sequences
Seq C1 exon
TTGAAGACCAATGTTTCTCTTTGGAAGGAGCTGGAGTCAACTAAAGCTGTTATTATGGGAGAAACTGCTGTTGTAGAAATAGATACCTTTCCCCGAGGAGTAATTTTAATATACCTAGTTATAGCATTTTCACCTTTTGGATACTTTTTGGCAATTCATATCGTAGCAGAAAAAGAAAAAAAAATAAAAGAATTTTTAAAGATAATGGGACTTCATGATACTGCCTTTTG
Seq A exon
GTATGTTATTAAAAATTTATTACTTAATATAATTAAAAATTGTATTAAATATACAGATTTTCAAAATTGTAATTTTGATATTTACCTAACTTGATGATGTGCTTATCCTGTTTTCTTACAATGATTGCCTTAGTCTTGGAATTTGAGATTAGTCAAGAAGTTTCAACAACTAATTGGCTTCATTTAACATAAGGGATGAAGAATGTCAAAGCTTGTGTTGACAATACGTGTTTAAATTTTATTTCACATTTTATTTGAATCATGGGCACACTCCGTGTATATTTCAGTGTATTTCAATATACTCCACGTATATTTCTGTGTATTTCAGAGTTCAGGAAATGTGAAATCTTGGAACATTAGAAATTAATTGCTTGTTACAGTTCTTCCATAATATAGCATATATATAATATTAAAAATTTAGTTATAGTGATTAAAGTCTGTATATGTGGTATATGGACTTTTTTTCCCTCGAAAGTTTTAGTTATTTGGGTGAATTAAGATGAATATGGAAATAATTTTAGAGAAAGAAATGAGAAAACCATGTTTTCACTAGTGACCTTTAATGTATCAGCATTTTTGTACAGTGATAATTTTACAAAGGCATGCATTTTTATAAATCTAAGTGTAGTTTCCTTACTCTTTTCACTATGTAATGAAGTTCATTCTGGGGGGAAGGTTAATACTGTGCATGTGAGCTGTTATAGTCTGTTTTACAAAATTTTATTCCAATTAGCCCAATGTAACAATTAATCATTAACACTTTACATAATGGAATTATTGTATATAACATATTTCCTTTGCTTGTTTTTCTTTCATTTGTTATTTTAGAAATTATTGGTTTTGGATTATTTTTTGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTATAGTGGCATGATCATGGGTCACTGTGGCCTCAAACTCCCAGGCTCAAGAGATTCTCCCATCTCAGTCTCTCAAGTAGTTGGGACTACAGGTGCATGCTGTCATGCCCAACTAATTTTCAATTTTTTTGTAGGGACGGGGGTCTCGCCATGTTGTGCAGGCTGGTCTCAAAGTCTTGGCCTCAAGTGATCCTCTCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCAAAGGATTGGTTTTTAAAATTTATTGGGTTATTAAAGTATTTTATGGAGAACCGGTAGCTGGAAGAATTTAGGCAAATCATTCTCTCAGGGTCTCAGTTTTGCCTCAGTAAAATGATGGATTCAATTTTGATAATTTCGCTACCTTTTTAGCCTTAACTCAGTGATTTCATGACATCATTAAATCCTGAGCTAACTTGGAAAAATATGTAAAATAAAACTTAATACTGCAGCAATTCCATTGAGCTCTGATTTGTAAAGAAGTCTTGAGCAAAAATAGTGAATTCATTACTGATCTTGTTGATTTCACATTGTGTAATTGTAGTAATTATGTCATTGATTAGTGAGGTAAGGTAGCCTTTATTGTTTATAGTTACAGAAGCCATCAGAGGTTTAATTGTAGCACATGCCATAAAGAAAATTGTTATCTTGACTCATTAAACTCCTACATTTTAAGAAAATCAGAGACATTGTGTGCTATTGAACTTTTGAGAATATTAGATTTAAATTAATTATGAATTACTATTCATTTTGAAAGCTTTTTTAACTCTGGAAGATAGTATTTTTTATCAGATTACACTTTTACCTATCACTTAACCAATACTATTTTTAATTACTTACAAGACTATTAATTTTTAGTACATAAGCATACACAGAAATGAACAGTGACTTAATTTTAAGAATAAAATGGCTAAAATCTAAAAATTTTGTTTAAAATGATTTTTTAACTGGTTAAGCCTATGCATTTGACCATAACTATATCTGTATTCTCATTTTAG
Seq C2 exon
GCTTTCCTGGGTTCTTCTATATACAAGTTTAATTTTTCTTATGTCCCTTCTTATGGCAGTCATTGCGACAGCTTCTTTGTTATTTCCTCAAAGTAGCAGCATTGTGATATTTCTGCTTTTTTTCCTTTATGGATTATCATCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265:ENST00000392676:6
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(19.6=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(12.1=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAATGTTTCTCTTTGGAAGGAGCTG
R:
AAAAGCAGAAATATCACAATGCTGCT
Band lengths:
342-2256
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains