HsaINT0000710 @ hg38
Intron Retention
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69289177-69290037:-
Coord C1 exon
chr17:69289862-69290037
Coord A exon
chr17:69289297-69289861
Coord C2 exon
chr17:69289177-69289296
Length
565 bp
Sequences
Splice sites
5' ss Seq
GAAGTATGC
5' ss Score
4.65
3' ss Seq
TTCATGCTTTACTTTTACAGGTG
3' ss Score
10.7
Exon sequences
Seq C1 exon
GGTTTGCATCTATATATGGACACAGAGTCTCAGAAATAGATGAAATGTTTGAAGCAAGAAAAATGATTGGCATTTGTCCACAGTTAGATATACACTTTGATGTTTTGACAGTAGAAGAAAATTTATCAATTTTGGCTTCAATCAAAGGGATACCAGCCAACAATATAATACAAGAA
Seq A exon
GTATGCTATTCATATAGAAATCTTTACTTTTATTTCCTGTAATCAATAACCTTTTGTAATGACTTGTGCAATAAAAATATGCTTGAAAATCTAAATATAACACTTGTTCTGAGCCAGCAAACAGAAAGCTATTACAAAGAATTAGACAGAATTTGGAGTAAATGTTTTAGCACACATAAAAGTTTGTTTCATCTGGAGGATGCTTGCCTGCCTTATTCCTGCCTTCTCTTGCTCTCATCTCCTCTACCCCCTCCCACTTCCACACATACATTAAGAGCCATCACAGTGATCTCTTATTCCTTCCCTACCACCCAAGAAGGCACAAAATTAAAACCTTTCCCTCAAGAATCTTGTTACCTGTTGTTTTCATAATTATATATGAGTATATGTCAAAGGCAGTTCCATGCTAAAGGATCATTTTTAAAGTTGATATTAAAATTATTTAAAAACCTATGTTACTTAAATATCTAACACATTAAAACTTAAAATATTTAAAAAGTAATATTGATAATTATATAAATGGTATGATTTTTAAAATAACATTGTTCATGCTTTACTTTTACAG
Seq C2 exon
GTGCAGAAGGTTTTACTAGATTTAGACATGCAGACTATCAAAGATAACCAAGCTAAAAAATTAAGTGGTGGTCAAAAAAGAAAGCTGTCATTAGGAATTGCTGTTCTTGGGAACCCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265:ENST00000392676:13
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:
PF0000522=ABC_tran=FE(39.5=100)
A:
NA
C2:
PF0000522=ABC_tran=FE(26.5=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:
GGTTTGCATCTATATATGGACACAGA
R:
TTCCCAAGAACAGCAATTCCT
Band lengths:
289-854
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