HsaINT0000733 @ hg38
Intron Retention
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69251747-69253667:-
Coord C1 exon
chr17:69253573-69253667
Coord A exon
chr17:69251867-69253572
Coord C2 exon
chr17:69251747-69251866
Length
1706 bp
Sequences
Splice sites
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
3' ss Seq
GTTTTATTTATGTTTTATAGGCG
3' ss Score
8.33
Exon sequences
Seq C1 exon
TTGTGTTTTGCTCTAAGTATGCTAGGGAATCCTCAGATTACTTTGCTAGATGAACCATCTACAGGTATGGATCCCAAAGCCAAACAGCACATGTG
Seq A exon
GTGAGTATGGTACTTGTGACACAGTACATGATACTTTAGAATAGAACAGTTTCTTTTATTATAATAGTTTAATGTTAGTTATATGTACATCTTGATTTTAAATCCTATTCAAACGATACACTAGTAATTAAAAATTAAATAGATTTAGAGATTTCCTTAAGCTTTTAAAACTTTGCATATTTTTCATGAAGTGTTCATAATATTTTACATATTCCGAAACAGAAATAAGCATGAGTCATTATTAAGATAAAGAGTTCTAGTGTTCTGAATAGTTTTTAAGTTTTTTTCTAGTCATTTAGCATACAAATGATCTTTTCCATAATAATAGTGTCTTAAATTTATGTTGAGACTCTTTCTAGGACAGTCATGCATTGCCTAATGACAGAGATACATTCTGAGAAAGGTGATGTTGTCGTTGTGCAAACATAATAGAGTGTACTTATATAAATCTCTGGGTGGTTATAGCCTACTACACACCTAGACTATATGGTATAGCCTATTACTCCTAGGCTATAAATCTGTAGAGCATGTCACTGCACTGAATACTGTAGGCAGTTGTAACACAATGGTATTTGTGTATCTAGATGTATCTAAACACAGAAAAGATACATTATAAAAGTATTATAATCTTATGGAATCACTGTTGGAAATGTGTTTCATCATTGACTGAAATGTCATTATGCAGTGCCTGTAAAGTACTAATTAGTTGAACAACTCTTTTTTTTTTTTTTTTTTTGAGTCAGAGTCTTGTTCTGTTGACCAAGCTGGAGTGCAGTGGTGCCGTCTTGGCTTACTGCAACCTCTGCTTCCCAGGCTGAAGCGATTCTCCTGCCTCAGCCTTCCAAGTACCTGGGACTACAGGCAAGAGCCACCAAGCCCGGCTAATTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCCCGAACTCCAGACCTCAGGTGATCCGCCCCCTTCGGCCTCCCAAACTGCTGGGATTACAGGTGTGAGGCACAGTGCCTGGCCTTGAACAACTCTTTAAGCCTCAACTTCCATGTCTATAAAATGTAAGGTTTGGTTTGGATGCATGTTACGGTTTTCTTATGATTCAAAGCCTGTTTTGGTTATAACATGAAAAGGCATCAATTTTAAAATTTATTTGTTGTCATACTTTTAGCCCATATTAACATTTGAAATCATAGATTTTTTTTTTCCATTTGACAAGCTTTCAAAATGAAGGGAAAATAAATTAGAATATAAAAGTCATGGCCTGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGCAGACCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATGGTGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGGGCCACTTCTCTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATCATAGTTGGGCAGGATGTAATAGCCATAGCAATTGATATTTGGTAAGTTTTAATTAACTTAATTAACCAACCGGTTGGATTTTTAAAAACCCATTTTTTTTTAACAAACAGATGTGTTCCTCTCTTTTTGTTTTATTTATGTTTTATAG
Seq C2 exon
GCGAGCAATTCGAACTGCATTTAAAAACAGAAAGCGGGCTGCTATTCTGACCACTCACTATATGGAGGAGGCAGAGGCTGTCTGTGATCGAGTAGCTATCATGGTGTCTGGGCAGTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265:ENST00000392676:34
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.188 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=PD(13.7=62.5)
A:
NA
C2:
NO
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:
TGTGTTTTGCTCTAAGTATGCTAGGG
R:
CTTAACTGCCCAGACACCATGA
Band lengths:
214-1920
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