HsaINT0000833 @ hg38
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68917361-68918185:-
Coord C1 exon
chr17:68918047-68918185
Coord A exon
chr17:68917452-68918046
Coord C2 exon
chr17:68917361-68917451
Length
595 bp
Sequences
Splice sites
5' ss Seq
CGGGTAATC
5' ss Score
4.59
3' ss Seq
TTGCTCTTCTTCTTTTTCAGACA
3' ss Score
11.22
Exon sequences
Seq C1 exon
ATTTTCCTGTTGGATGAACCAACTGCTGGATTGGATCCCTTTTCAAGACACCAAGTATGGAACCTTCTGAAAGAACGCAAAACAGACCGCGTGATCCTCTTCAGTACCCAGTTCATGGATGAGGCCGACATCCTGGCGG
Seq A exon
GTAATCACTGGTTTCTGTTAAGTATCCTGAGGAGGACTTTAAGAGATCTAAAAATATGGATTGGTCTCTGAACAGTTATATTTTGTAATTCGGTAATCTAGCTGTATCTGGTAAATTGAATGGCTGGTGGTAATTTGAACTGGACGCAAAGCCTCTTGCAACCATTTCAGTGTATCTTGCAGAATTTTGTATAATTTGGTCACATAGAAGCATGATCTGCCAGGAAACTCGCTTATTGCAAAATAAGTGAAGTTGAGTTTCTAAGAGATCAATCCTTTTACTCAGAATTGAGGGAAATCCACTTGAAATATTCAAATGATTTTAATGTTTCATCTGTTAAAATATATAATGGGATAATTTTCTATATTAGAACATATATCCACAAAATTTAACCTCCCTGATGGGATGGATTGCAAAATTCACGTAAACGAGATTAAAATGTGTCTATTTCATTGAGTCCTTATCGAGTCCTGCATTTAAAACCTTAGAAGCTCCTGAATTAAAGTTTGATTATATAGATGATTACCTGTCTTTTCTTGGAAATGGATGGGCCACTTTTTAACAAACTTTCTTCTTTGCTCTTCTTCTTTTTCAG
Seq C2 exon
ACAGGAAAGTATTTCTCTCCCAAGGGAAGCTAAAGTGCGCGGGCTCTTCTTTGTTTCTAAAGAAGAAATGGGGGATTGGATATCACTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338:ENST00000269080:14
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=FE(29.5=100)
A:
NA
C2:
PF0000522=ABC_tran=PD(7.1=35.5)
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:
TGGATCCCTTTTCAAGACACCA
R:
CTTAAGTGATATCCAATCCCCCA
Band lengths:
199-794
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