HsaINT0000835 @ hg38
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68906044-68907879:-
Coord C1 exon
chr17:68907740-68907879
Coord A exon
chr17:68906164-68907739
Coord C2 exon
chr17:68906044-68906163
Length
1576 bp
Sequences
Splice sites
5' ss Seq
CAGGTAATG
5' ss Score
9.43
3' ss Seq
GCTGTATATGTATTCTTTAGAAC
3' ss Score
6.03
Exon sequences
Seq C1 exon
CTTGCAGTTAAATGAAATATGTGTTGAGGAAAACATAACATCACTTGTTAAACAGCACATCCCTGATGCCAAATTATCAGCCAAAAGCGAAGGAAAACTTATTTATACATTACCCTTAGAAAGAACAAATAAATTTCCAG
Seq A exon
GTAATGTGCATGAACACTGTGAAATAAAATATGTGAATAATAGTCATCATCATCATAATTATTATCATTACAACTAACATTTATCAATGTCTTACAGTATGCTCAGGTACTGAAACATAATCAAAAGAATAGTACAATAACTGAATTATTTTCTGTATAGTGGGAAATAGAATTACATTCTAATAGTTGTATTGTAATGCCTGGGCATTTTAGAGGGCTTCTTTTAGTCCTTCTTCCCTAGTAGTGTGTAACATAATATTCTAGTATTCATAAATGTACACAAACCCAAATGGTTGAAAACCTCTGGCTTATGCACTACATTAAACAGCCCTGTGATGTGGCTATCTGTCTCGGTGAGACTTTTGCAATAACTTTGGGTTTTTCAGGCTAACGCATAAAAGTTTACTAACTATGTTTGTTGTTCAGGGAACTTGTTCCTTAACAATGGGGCACTATAAGGGCCCACATTAGTGGTTGAAACAATTAACCTTGCTGTATATGTGGTTAACAAAGACATATACATTCATTCAAATACACATTTTATGGTGACAACACAAGCATTCCTTAGAATCATCAGGAAAGTGTTACGCAAATTCTGATTAGTACTTTTTAACAGTAATTATAATTTAAAGAAAATTTGTAGACGTTTTAGGTGGAATGAAGAATGATGCATAATACTCATTATTAGCTTAAATCTTACTTCTTTTCTACCTTTCTGTATGAGGTATTCTAGTCAAGACAAAAAGCTTTTAACCTATCCTTTTGCCCAAGCAGGAGCTCCAGATGGAAGCCTCAGGACTTCTGTAATCACCCTAGTATTAGAATTAGGTTTTTATTTAAGCTTGATTTAACCACTGTAATTCAAATCCATGCAGGCAGGGGCACTGTTCACTGCTTCATGAACAATGACAGATGCGTAAGTATATTTTGGTGAACGAACTAAAGAATGAATAGATATAAAATTGCTAGAGCGAATAATCACTGTCACAATTCCAGGAAAATTCCCTGATTCAGTTCCACATTCTCTGCCTGTTAGGTCTTGTGAATTTTTTCTTCCATTGTTAGAAACAGAAAATTTTTTAATGGTTTATATTCTATGTCTTCTCTTTAACAAATATTTTCTAAACTACAGAAGATTCTACACCATCCAATTAATTCTCAAAAAATTAATTCCTTTCCTTTTGTCAGTTAGAACATAAATGGCTCCCATTTATATCTGTTCTCTAGAAAAGACTTTTCAATTAATTAGGCTTAGAGTTGAAAAACCCAGAGTCTCACAATTAATTAAATTTTAAAAGGAAGTCAGAAAAAACTAAGATTAAACTTTAATAGAAATGCAAATGAATATAAATTAATGTTTGACAAAGTAATATTTGGGTTGTAACACATGATGTAAAATAGAAAATAATATATAGAATTTGCAGAATAAGATGATCTATTATGAAATGTTAATTTTCAAATGTTTTTGACATATCACAAGTATAGTTTCATAGATTTGTGCTTATTAGTTTGAAAAATTGTCTTCAGTTCACTTGTGATTCTTGTTTTAATTCACTGCTGTATATGTATTCTTTAG
Seq C2 exon
AACTTTACAAGGATCTTGATAGCTATCCTGACCTAGGAATTGAGAATTATGGTGTTTCCATGACAACTTTGAATGAAGTATTCCTGAAGCTAGAAGGAAAATCTACAATTAATGAATCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338:ENST00000269080:16
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:
NO
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:
TGCAGTTAAATGAAATATGTGTTGAG
R:
TTGTAGATTTTCCTTCTAGCTTCAGG
Band lengths:
246-1822
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