HsaINT0000843 @ hg38
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68887017-68887506:-
Coord C1 exon
chr17:68887336-68887506
Coord A exon
chr17:68887131-68887335
Coord C2 exon
chr17:68887017-68887130
Length
205 bp
Sequences
Splice sites
5' ss Seq
CAAGTAAGT
5' ss Score
10.08
3' ss Seq
CACATTCCTGTTGATTTTAGATC
3' ss Score
8.59
Exon sequences
Seq C1 exon
AACAGAGCTCGGTCCCAGCTACGGATTTCCGGACTCTCCCCTTCTGCTTACTGGTTTGGGCAGGCGCTGGTGGATGTTTCCCTGTACTTCTTGGTCTTCGTTTTTATATATTTAATGAGCTACATTTCAAACTTCGAAGACATGCTACTTACAATAATTCATATTATTCAA
Seq A exon
GTAAGTGACAATATCCAAGTAAGTGACAATATTCACAATATCATTGTGTGATTTAATTTGAAATTTTGGAACATTTCTATCAATATTTATATGGTCATAAATTAAAGAACTATAAAATCCTGGGCTATGACAATGTTTTGAATCCTAAATATTTTCCTTGATTGCATTTGTATTTAACTAAGCTTCACATTCCTGTTGATTTTAG
Seq C2 exon
ATCCCATGTGCTGTTGGTTATTCCTTTTCCCTCATCTTCATGACATACGTGATTTCCTTCATCTTTCGCAAGGGGAGAAAAAATAGTGGCATTTGGTCATTTTGTTTCTATGTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338:ENST00000269080:23
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(18.4=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(12.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACAGAGCTCGGTCCCAGCTA
R:
ACATAGAAACAAAATGACCAAATGCC
Band lengths:
284-489
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