HsaINT0000863 @ hg38
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68927916-68929234:-
Coord C1 exon
chr17:68929049-68929234
Coord A exon
chr17:68928064-68929048
Coord C2 exon
chr17:68927916-68928063
Length
985 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
3' ss Seq
AATTACTTTTTAATTTTCAGCTT
3' ss Score
8.31
Exon sequences
Seq C1 exon
GTAGCTTTGGCTTTCTTAATGAGCATCTTGGTAAAGAAATCTTTCCTCACCGGCCTGGTCGTGTTCCTCCTCACTGTCTTTTGGGGGTGTCTGGGGTTCACATCACTGTACAGACACCTTCCTGCATCCTTGGAGTGGATTTTAAGCTTGCTTAGTCCCTTTGCCTTCATGCTTGGAATGGCCCAG
Seq A exon
GTGAGATGCCATCTGAATGTCTATTAATGGCATTTCTGAAACATCTGTCCCTCTGGAATCCATAGGCTGTAATCATTTACAAACTCAGCATTGTAAGGCTTAAAATTCTAGCGAAGGCTGTTGTAAAGTTGCAAAGACAGAACTTTTAAAAGCTTGGAAATTATTTAGCCCAGCAAAATAAGACATTTGGAAAGTGAAAAAAAGAGGATCAACATACAATTATTTAAAGGCAATATAAAGTATTTTCTTAGGCTATTAATTAAATATGGACATGTGGCAAATCTAATTATAAATAACTATTCCAGTTCATGTTTTTACCTAGTAATTGAAGAGAATACGTGATTAAAAACCATTAAATCAAATTAAATTAAAAATTTAAAACATCTGGAAAATTCATTAGTAAATTATGTTTCTATTCATAAAATGTCTTTTCTGTTTATGTGATTCTTATTGAATTCCCCTTGCCTTCCCTCTAACTAAATGGAAATGTCAACCATTAAATATCCATTATTTAGTGTTTAACAAAAGGATTGTTAATTATAAAGAGCTCATTAACTTGAACATCATAGACAAGCCCACTTCTGGTTCTACTTAAACACAGCAGTGCCTTTTGCCCAGAAATTCTCCCTCATGCCGCCAATTTACATGGATCACCACACCTTTTGACTGTGTCCTATTTGGTAAAAGTTCATCTAAGTTCGATCTCAAATGTCATCTCTTCCCATACTTCCCTACTTCCTCCTAATGTTTCAATTTCATTTGGAACATATTTTTATCATAGCAATTACTAAATTGCATTCTAGTTGCTCATATGTCCATGCCTTCCAAGGCATAGATTTGAGAACCATAAAGGAGGCAGTCTCCCTATATAACTCTATTCTCAGTATGAGGCAATAAGTAGTCATTTCATTACTATGCTAAACCTAACTGTTTAAAATGTATCTTATACCTAATTTCCCTTAATTAATTACTTTTTAATTTTCAG
Seq C2 exon
CTTTTACACTTGGACTATGATTTGAATTCTAATGCATTTCCTCATCCATCGGACGGCTCAAATCTCATTGTAGCAACAAATTTCATGTTGGCATTTGACACTTGCCTCTATCTGGCATTGGCGATTTACTTTGAAAAAATTTTGCCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338:ENST00000269080:8
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(15.6=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=PD(10.7=84.0)
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:
GCTTTGGCTTTCTTAATGAGCA
R:
TTCAAAGTAAATCGCCAATGCCA
Band lengths:
318-1303
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