HsaINT1000106 @ hg38
Intron Retention
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94062577-94063317:-
Coord C1 exon
chr1:94063112-94063317
Coord A exon
chr1:94062754-94063111
Coord C2 exon
chr1:94062577-94062753
Length
358 bp
Sequences
Splice sites
5' ss Seq
CAGGTGATG
5' ss Score
5.99
3' ss Seq
GTCCCTCTGTGTCTTCTCAGGTA
3' ss Score
11.79
Exon sequences
Seq C1 exon
TGCTTGGTCCTGGATAAGTTTGAAAGCTACAATGATGAAACTCAGCTCACCCAACGTGCCCTCTCTCTACTGGAGGAAAACATGTTCTGGGCCGGAGTGGTATTCCCTGACATGTATCCCTGGACCAGCTCTCTACCACCCCACGTGAAGTATAAGATCCGAATGGACATAGACGTGGTGGAGAAAACCAATAAGATTAAAGACAG
Seq A exon
GTGATGTTTCAGGAAGGGCTCGCTGCATTTCTCCAAAGTCAGTGGGAAATTACATTTGGTAGAGAGAAAGGGATTGAGACTGGACTCATAAATCAATAAAATTAAGTTAAATAAGAAAAAATAAGATATTTTATAAAGCTCAACAAAGAGTCCTTGAATGAAAGCAATTACAGAGTCACATTGTGGCTAATATTCAAAACTGAGATTTAAACTGAGGACTAGGAAATAGAATTGGATCCTTTTGAAGCGTTTAGGAGAAAGATTTTAAGAGAATGAGTTCCGAGTCACCCTGTGGTCGGGAGGTGTGAGTGAGCTATCCAAGCCCGTTCCCATCCTTTGTCCCTCTGTGTCTTCTCAG
Seq C2 exon
GTATTGGGATTCTGGTCCCAGAGCTGATCCCGTGGAAGATTTCCGGTACATCTGGGGCGGGTTTGCCTATCTGCAGGACATGGTTGAACAGGGGATCACAAGGAGCCAGGTGCAGGCGGAGGCTCCAGTTGGAATCTACCTCCAGCAGATGCCCTACCCCTGCTTCGTGGACGATTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691:ENST00000370225:12
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(19.8=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(17.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAAACTCAGCTCACCCAACG
R:
TCCACGAAGCAGGGGTAGG
Band lengths:
342-700
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains