HsaINT1000131 @ hg38
Intron Retention
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69256157-69259797:-
Coord C1 exon
chr17:69259706-69259797
Coord A exon
chr17:69256284-69259705
Coord C2 exon
chr17:69256157-69256283
Length
3422 bp
Sequences
Splice sites
5' ss Seq
CAGGTCAGT
5' ss Score
8.94
3' ss Seq
TATTTATTATATATATGTAGAAA
3' ss Score
4.55
Exon sequences
Seq C1 exon
CCTTACCTGCAGTGTGTACTGTGGATTTTCCTCTTACAATACTATGAGAAAAAATATGGAGGCAGATCAATAAGAAAAGATCCCTTTTTCAG
Seq A exon
GTCAGTTGATTTTTTAAAAATTTTAAATGTTTTTAGTATATTTACAGAACTGTGTAACCATTACCATAACATAATTTTGGAACATTTCCAGCACTCCAAAAAGAAACTTTGTACCCATTAACAGCCACTTTCTTATCCCTATTCCCATAGCTCCCAGTCTTAGGTAACCACTAATCTACTTTCTGTTTCTGTCAGATTTGCCTGTTCTGAACACTTTATATAACTGGACAATGGAAATATGCTTTGGAAAACTTGAGTCAAAAGACCAACAATTCTCTTAAATACCTTGTATTTAACTTTTATATCTGTTTGCTTTTTACCATAGTTGGTTGGCATGTTATTTTAATGTTGGAAAATCATCAGATTTGCCAGATAACATCTTTGAAAAATTGCTAGGATTTGGGCACTATAATTAGTATCTAGCATATGGTTTTACACTTAGTATAATGTTTGGAGGGCTTATCATGTAGTCGTGTGTAGCACTTTTTATATATCTTAATGAGTTGCTTTTACTTTTCAACTATTATGAACAATGCTGCTATGAATTCAGCTATTATGAACAATGTTGCTAGTTTGTATACAACTGTTTGTATGGACATATATTTTCATTTCTCTTGGGTGGATACCTAGAAATGGGATTGCTGGGTCATTTGAGGAATTGCCAGACTGTTTCTAAAGTGGTAATACCATTTTACACTCCCGCTAGGAATGTTTTAGGGTTCTATTTTCTCCACATCCTTGCCAATGCTTGTTATTGTTTGTCTTTTTTACATATTCTTCCAAATATATTAGCTAATTTGTTTTTACTTTTTCTTCTATCCAGCCTTGCTTACATGATTCATCACTTTATTATCATTTCAGCATCCTCAACTTTTGTCTTTTCGAACTGTCCACTAAAAATTATAATTATTGGTGAATCGAATTATATGCTGGAAAAAATAACATAAAAGTTCCATTTGATAATACTACATATTTATTCCATATAAATTCAGCTGGTTTTTTAAAAAAAATATTTTAGATTTGGGGGTAAATGTGCATGTTTGTTAGCTGGGTATATTGCATACTGGTGGGGATTGGGCTTCTATTGTAACATTACCCAAATGGTGAACGTTGTACCTAATAGGTAGTTTTTCAACCCTTATCCCCACCCCCTTTTGGAGTCCACAGTCCTAGTGTTTCCATGTTTATGTTCATGTGTATCCACTGATAAGTGAGAACATGTTGTATTTGATTGTCTGTTTATAAGTGAGAACTTATAAGTGAGAACATGTGGTATTTGATTGTCTGTTCCAAATTAGTTCACTTAGGATAATGGTCTCCAGTTCCATCCATGTTGCTGTAAAGAACATAATTTCATTCTATTTATGGCTGTGGAGTATTCCATGGTGTATATGTACCATATTTTCTTCACCCAGTCAACTGTTGATGGACTCTTAGGTTGGTTCTATGACTTTGCTATTGTGAATAGTACCATGATGAACATATGAGTTCAGGTGTCTTTTTTATGTAATGATTTTTTTTTTCCTTTGGATATATATCCAGTAGTAGGATTGCTGGGTTGAATGGTAGTTATATTTTAATACTGTTTGGTAACGAATAACATTTTCCTAGTTAGCACCTTCTTATCTCTTTCTTTTCAATAGTTATTCAAAGCTTTCTCTTTATTCCTTGTATTCCTCAAATCACCTTATCTTACTTCCTACTTCTCAGTAAATAATCTTGTCATTTATCTCAGAAAATAGAAGCACTTAATTATAAGTTATAAATTTCTACAAACTTACTCACATCTTCCATCATTTTTGCCTTTTCCCAGTCCTAGAGGAAGCAGCAGTCCATCCTATTACCCAAATCTTCATTTATTCTATATACTTGGAATATTGCTCAATTTTCTTTTTCTCTTTTTCTCTTTCCTTTCTGGATCTCAAAAGTGTATTTTTTCTCTTTTTCTCTTTCCTTTCTAGATCTCAATAGTGTATTTTTTTCTCTTTTTCTCTTTCCTTTCTGGATCTCAGTGGTATATTTTTGGGGTTGGGGAGGGTCACCTTTCTTTCATATATGAAAGAACCCATGGATCTCATTTGAACATGAATCCATCCCTAATTCCTATTCTATATCTCTCTTTCCTTTCATAGCCAAAATTCTTCTATCTCCAGTTACTCACCTTCCATCCACTCCTATAACTCCCTGCAATCTGGGTTTTCCCTTACCTTTCCATTGATACTATTTTCAATAAGATAACTAATGATTTTGTCTTTTCATTGTCTAATAGGCTCAACTTATTTAACTAATCTGCAGGCTTTAATATGATTGACATTGTTCTCCTTACACATTTTTCTTTTTTTTTTTTTTTTTGAGATGGAATCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGGTTGAAACGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGTTAATTTTTGTATTTTATTTTTTAGTAGAGACAGGGTTTCTCCATGGTGGCTAGGCTGGTGTTGAACTGCTGACCTCAAGTGATCTGCATGCCTCGGCTTCTTAAAGTGCTAAGATTACAGGCAGGAGCCACTGCGCCTGGCCACATTTTTCTTGTTCCTTTGTTTTCCATTATGTCTTCTGTTTGCCTCTGTACTTCAAAATTGCCTTTGCAAGCACTTCATCCTCTGTCTATCCCTAAAAATGGTGTTACTGTGGGTTCTGATGTCAACCCTCTACATCTACTCTTTCTGGGCAATTTCATTTATACTCAGGTTGTAAATTTTTTGAGGGCAAGGTTCATGTTTTTTCATCTTTCTTTCTGTGTAATAATACCTGACACCTACTAGTCATAAATAATATTGTTGAATAAATGAATGAATTTAGATAATATCGTCCAAATGTTATCAGTCATTGAAAAATAATGCTTGTGGCTGGGCATGGTGGCTTGAACCTGTAATCCCAGTACTTTGGGAGGCTGAGGCAGGTGGATCTTTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATGAGCCGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTATAGTGACCTGAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAGTGTGAGACCCTGTCTTAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAAAAAGAAATATCGCTTATAATTCCACCTTTCAGAGATAATCCTAGATCTTATGTTAGTGTATTTTTTCAGTCTTTTCTCTACCTAGTATCTGAATTTCTTACTATTTTAATTATTTGAAAACCTACTGTCTTTTATATTTATTATATATATGTAG
Seq C2 exon
AAACCTTTCAACGAAGTCTAAAAATAGGAAGCTTCCAGAACCACCAGACAATGAGGATGAAGATGAAGATGTCAAAGCTGAAAGACTAAAGGTCAAAGAGCTGATGGGTTGCCAGTGTTGTGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265:ENST00000392676:28
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=0.372
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(2.9=35.5)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
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
- Autistic and control brains