HsaINT0000712 @ hg38
Intron Retention
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69286221-69287751:-
Coord C1 exon
chr17:69287613-69287751
Coord A exon
chr17:69286312-69287612
Coord C2 exon
chr17:69286221-69286311
Length
1301 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
3' ss Seq
ATGTAAATATTTATCTGCAGATA
3' ss Score
8.54
Exon sequences
Seq C1 exon
ATACTGCTGCTAGATGAACCAACAGCTGGAATGGACCCCTGTTCTCGACATATTGTATGGAATCTTTTAAAATACAGAAAAGCCAATCGGGTGACAGTGTTCAGTACTCATTTCATGGATGAAGCTGACATTCTTGCAG
Seq A exon
GTGAGATTTTTGTTTTATTTTCGAAGGCTGAGATCATGGGCCAAAAGGAAGATGGATATAGAGATGCTAATTCCTGAGGTATAAATAGAGAAGCTTTTACCTAGTGGTATGTTTCCTTCACAAAAAAAGTTCTAAAAAATTTTAAAATGATACATTTTTGTGTTGAGAATCTCCAAGACCATCCCAGGTTTAGTGATGTCCTAGAAGAACTCATATGACTCAGCACATAGTCATACTCATGACTATGATTTATTACAGCAAAAGGATACAAAGCTAAGTTAGCAAAGGGAAAAGGTATATGAGGCAAAGTCTCGAGGAAACCAGGTAGAAGCTTCCAAGAGTCCTACTCCCAGTGGAGTAGACAGATGTGCTTTAATTTCTTCAGCATTGAGTTGTAACAACATGTGTGAAATATCTACTTGGGAAAGTTAGTATATACTCAGTGTTCAAGATTCTTATTGGGTGCTGATCACATAAACATCTTCTGCCTAGCACATACCAAAGTTCCAGATTCTCAGAAGGAAAGAAGTTGTTTGGCATAAACCACATTGTTTGTACAGTTTAGGCACTGAGCCACTCTTACCTGTTTTGAGAATAGTAGGAACCCTCCCAAATCCAAGTTCTCAACTAACAGCCAAGGGCCAACCTTGTAAGCAGGCCTTTCTAAGGATAGAAGCCTCTGACCTGCTATGTTAACTCTTTTCTGCACAATTTTATACACATACATACATATAAAGAATCCAAGTTGAAGTCAACACATGACTTTTAATAGCTATGACAGATATAGAAGTTTGAAATTCTTGAGCAACTTCTGTCTGCTTATAATATAATCTAATAAAATTGGGCAAGTCATTCATGTCTTCAGTAGTACCTTTATTTTTAAAAACCCAACAAACTAACATTTGTTCTTCTTATTACTTTTGTTGATTTTTGGAGTTGTTTCTACATTTGGTTATAAAGGAAATTGTGAAAGTGCTTGTATTGGTAAGCCTTTTAGGAAAAATATATTTGGAATAACATATGGTAAGTAGACTCTAGAGTCAGACTCCTTGAGTAGAGTTCCTGGCTTTGTTACTTAATAGCTGTATGAAACATATATAAGGAATGTATTTTCTTTTTACCTTAGTATTCATATCTGAAAAATAGTTGATGATAATCTAGTACCATCCTCATAAGACTTTTTGTGATGATTAATGATATCATAATGTGGATGACTCTCATATGAGAAACCATAAAATGTAAATGCCAATTATTAATGCTGTTGATACTTTAGAAATTGAAATGTAAATATTTATCTGCAG
Seq C2 exon
ATAGGAAAGCTGTGATATCACAAGGAATGCTGAAATGTGTTGGTTCTTCAATGTTCCTCAAAAGTAAATGGGGGATCGGCTACCGCCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265:ENST00000392676:15
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=PD(5.4=17.0)
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:
TACTGCTGCTAGATGAACCAACA
R:
GGTAGCCGATCCCCCATTTAC
Band lengths:
222-1523
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