HsaINT0000738 @ hg38
Intron Retention
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69306725-69308368:-
Coord C1 exon
chr17:69308280-69308368
Coord A exon
chr17:69306955-69308279
Coord C2 exon
chr17:69306725-69306954
Length
1325 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAAT
5' ss Score
8.76
3' ss Seq
TTTACATTTTCTAATTATAGTTG
3' ss Score
6.44
Exon sequences
Seq C1 exon
CTGGCTGTTCAAAATCATGTGAGGCTGCTCAGTACTGGTCCTCAGGTTTCACAGTTTTACAAGCATCCATAGATGCTGCCATTATACAG
Seq A exon
GTAAATATGATAAAGGAAGAAATACAAAAACTATGCCATTTTAAAATAAATATTTCCTTATTCTTTACAATAGTATTTGGTTTGACTACTGTCAAATGTACAAAATATGTAACCTACTACAACTCCTTTGAGAAAAAAGATAAAAAAGTCATATTTTCTGATTTGGTACTTTTTGTTGTGTTTCATATTTTAGCAGAAAAACTGGCCATGAAATTTATTTTTAAAAATCTTACTTTTGTGTCTGGGCTAGATAACAGTAGATGAAGTTACCTTAGAATTCAAACTATTCAAATTAACCATATTTCATTCTTCCATGTTCTGTATGGATCTGTGGCTTTTTTTTCCATTTGCCCTTTCTAATTGAATTTACTATGCTACAAAATTTACTATGCTACAAAATATTGTAATTTCAAAATGTATATCAACCATCTTGTCTGCTAAACAATACGTTTAAAGTATGTATGAATAATGATGGAGCTGGAATCAAAATCTGAACAGGAGTCTTGTCTCTGTTGTTACACTGCTATGTAGTAAAATGACTATTATAATAGTACTTTACTTGACAGCATTGTCGTAAGAACCAAATGAGATGATTTATGTATAATTGTCTTGTAAACTTTTGTAGTACAGTATAAACATATTAGGGACGTGTAATATTGCACAAATTCAATAATACAGAAATTTAAGGTAAAGATAGTGAAATACGGATCTATTACATTGATGATGTTGTATCACCTATTTGTATTTTGGCCAAAGTTTTTAGCCATCCACAGCACAGACCACACTGGATGAATAGGCAGGATAGATTTCAATTTAGGCATTAATTGGAATGTTAGAAGTATTATGTGGCATAAATAGTTTTATTATTTGGTCTATATGTGCTAAATATATAGACTTTAAAGCAGTAGAAGGGCATGGTATTTAGAAGAACATTTTTTAAACAATCATAGGAATGATGGCACTAATAATCACTCCTAAATTCCTAAATTTTGAAGATGTATATTTTTACTAAGATACATATAATTGTCTGCTTAAGATGATAATTGTGCAATTTTATTTTATTTGACAAATTATTTAATCAAAATTTATACACTTACTGACTTTAAACTTTAAACTTTATGGTATACTTTTAGAATAAATTGAATGCAATATTCTACTCAGAATTATGATATTGGGGTCACTCACTTTATTTCAGGTATGGAGCTTTTTGAGGATTGTATTTGTACTAGGTTACTGACCAAATTTAGGGATATAGCTGTCCCGTTTTACTAGGGGCTGCTATCATAACTAAATTAATTTGATGTATTTACATTTTCTAATTATAG
Seq C2 exon
TTGAAGACCAATGTTTCTCTTTGGAAGGAGCTGGAGTCAACTAAAGCTGTTATTATGGGAGAAACTGCTGTTGTAGAAATAGATACCTTTCCCCGAGGAGTAATTTTAATATACCTAGTTATAGCATTTTCACCTTTTGGATACTTTTTGGCAATTCATATCGTAGCAGAAAAAGAAAAAAAAATAAAAGAATTTTTAAAGATAATGGGACTTCATGATACTGCCTTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265:ENST00000392676:5
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=PU(14.9=74.2)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(19.6=100)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGCTGTTCAAAATCATGTGAGG
R:
AAAAGGCAGTATCATGAAGTCCCA
Band lengths:
318-1643
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