HsaINT0000740 @ hg38
Intron Retention
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69302718-69304810:-
Coord C1 exon
chr17:69304669-69304810
Coord A exon
chr17:69302907-69304668
Coord C2 exon
chr17:69302718-69302906
Length
1762 bp
Sequences
Splice sites
5' ss Seq
TCTGTAAGT
5' ss Score
7.96
3' ss Seq
TTAATATTTGTATTTTATAGGTA
3' ss Score
10.4
Exon sequences
Seq C1 exon
GCTTTCCTGGGTTCTTCTATATACAAGTTTAATTTTTCTTATGTCCCTTCTTATGGCAGTCATTGCGACAGCTTCTTTGTTATTTCCTCAAAGTAGCAGCATTGTGATATTTCTGCTTTTTTTCCTTTATGGATTATCATCT
Seq A exon
GTAAGTATTTTAACTTGTGATAGGAATAAAGAACTGTCAAAATGTTTGATAACATAGCAAAGTCTTTTTCTTCAGTTTACTTATAGTCAATTTGCCATGAAAGACAGATTTTACTAATTGATAAGTGACTTAATAAATAAATGATGTGGCATCACTGTATTCCTGTATTTTTAGTAATGTTACAAAATAGTTTTAGATTTAGATTTAGCTTTTGTCATATGATGTATTTCACATACAACTCCTCTATCTGTTGTCTTTATATAATGATGTATATAATTAAGACTGTCAAGTATTGGACTATTTTTGTTTGTCTTCATGGAATCCTTACTCTTTCAAGTTAATTTATGCTCCAGGATGATGATTTTTAAAGATACATCTTTGCAAATGTAACTCTTTAGCAGTCTTGATATTCATTTGATATATTGGCTGAATGAGAGGTTTTAATGACCAGCCTTTGTTTTAAGTGGTTCCATCTTCCATTCTGATTGGTTTATGTGCCCACCCTGTATCAGTTGTTAAATGTTTTGGCTATCATTTCTGCTCTTTAAAATAATAAATTGCAAATAACTAACATACTTCCATATGTAATTGCCTGGTTTTTTTTTAAATGTTTAATTTTACTTTTTTGAGACAGGGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCACACTCATGGCTCACTGCAGCCTTGACCTCCCAGGCTCAATCCTTCAACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCATCACACCTTGCTAATTTTTGTGTGTGTGTATGTATATATGTATATATATATATACATATATATATGTATGTATATATATATATACATATATATATATGTATGTATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGTCGAGGTCTTCCTAAGTGTCCAAGTTTGGTCTTGAACTCCTGGGCTCAAGTGATCCACTTGCCTTGGCCTCCCAAAGTGCTGGGATTACATGAGCGAGCCACTGCAGCAGGCCTTCTGGTTTTTTTTTTCTTTTTAAACTGTTTTTTTTATCTTATGAATAAATTAAGTTTAAAATATGGGTCTTGTACTTAAAATTTTTGTTGATTTATTATTTTTTCACATATTTTATGCATCTTACTGCAGAAACACATGGCTATTTATGGTTTCTGTAATGTAGAGGTGGTCATGTTTACCTATGATACAGATAAAAATACAGTATTTAATATTTGTTAGTTTAAGACCAGATGTGGTGGCTCACACCCGTAATCCCAGCACTTTGGGAGGCAAGGCAAGAAGATTGCTTGAGGCAAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAAAATACTAAAATGCTGGACGTGGTGCCCCACGCCTGTAATCCCAGCTACACGGGAGGCTGAGGTGGGAGGATCACCTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATGGCACCACTGCACTTCAGCTAGGGTGACAGAACAAGACCCTGTCTCAAAAACAAAATCAAAACAAAAACACAAAAATATTTGTTAGTTTAAATTTTTAAAAGGTATATCACTATTTGTTTGAAAATAAAATACCATAGCATTTAGAAATTATAGTTGTATTTTTATGAATGCATTTTTCATGAAAATAGCTTGTTCTTTCAGAAGCAAACTTTAATTTTGTTTTCATACTGGTATATATGAACATTGCACTAACCTTAATATTTGTATTTTATAG
Seq C2 exon
GTATTTTTTGCTTTAATGCTGACACCTCTTTTTAAAAAATCAAAACATGTGGGAATAGTTGAATTTTTTGTTACTGTGGCTTTTGGATTTATTGGCCTTATGATAATCCTCATAGAAAGTTTTCCCAAATCGTTAGTGTGGCTTTTCAGTCCTTTCTGTCACTGTACTTTTGTGATTGGTATTGCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265:ENST00000392676:7
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(12.1=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=PU(48.2=93.2)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTTTCCTGGGTTCTTCTATATACA
R:
TGTGCAATACCAATCACAAAAGT
Band lengths:
330-2092
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