HsaINT1000133 @ hg38
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68918047-68919476:-
Coord C1 exon
chr17:68919301-68919476
Coord A exon
chr17:68918186-68919300
Coord C2 exon
chr17:68918047-68918185
Length
1115 bp
Sequences
Splice sites
5' ss Seq
GAGGTACAA
5' ss Score
5.13
3' ss Seq
TATACTTTCCTCGTTTATAGATT
3' ss Score
9.9
Exon sequences
Seq C1 exon
GTTCAGTCACCATCTATAACAATAAGCTTTCAGAAATGGCTGACCTAGAAAATCTCAGCAAGCTGACCGGAGTTTGTCCACAATCCAATGTGCAATTTGACTTCCTCACTGTAAGAGAAAACCTCAGACTCTTTGCTAAAATAAAAGGGATTCTGCCACAAGAAGTGGATAAAGAG
Seq A exon
GTACAAAAATATGTTAAAGTTAATGTGTTGGTCAAAATGAGATTATTAAAACCATTTGCACTGAGTTTTAATTTTAAATTATTTGTGCGCAAATCATTGTACAATTGTTGGACAAGAAAATCCAATTTAAACAATAGCTAACATTGCATATAATTTACAATGCGCCAAGCATATCCTTAACTTTAAATCTAATAAATCATTTATTCCTCATAGCAACCCTATGAGATAGGTGCTATTATTATCCCTATTTTATACATGTGGTTCAAGAGAGCAAGGAACTTGACCAACTTAGTAGTCAATGTGTGTGACATTCAAACCCGGAAAGTTTGGCTCCAGTGTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCCCAGGCCGGAGTGCAATGGCCCTATGCCGGCTCACTGTAACATTTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCCGCCAGGCTTGGCTAATTTTTGTATTTTTAGTAGAAACAAGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCGTTATCTGCCCGCCTCAGCCTCCCAAAGTGCTGAGACTATGGGTATGAGCCACCGCGCCTGACCCAGTGTTTGTGCTTTTAACCATTTACACTTTACAGCCTTGTATTTATAAATTTTTAAAAAAGGAATAAATTTTGGTGTATGACATAAATACTGTCTTTTGGTTAGATACAAAGGGTTCTGCTGGAATTGGAAATGAAAAATATTCAGGATGTTCTTGCTCAAAACTTAAGTGGTGGACAGAAAAGAAAGCTAACCTTTGGGATTGCCATTTTAGGAGATCCTCAGGTGAGTCACATTGAATTTGCAGGTGAATTCAAAGTTTAAAAAATGGAACTTTTGGTAATAGTTCAAATATTTTATTCGCAAAGGACATGTGTTATAAAATATTCATAATAGAACATTAAATAGAGTATCTAAATCCTAACCGTAATACTCTGTTAAATATAATCAATATGGTTTTTGCGTTGTTTTCTGGAAGAACTTCACCTTTGAGGAAAACCGCCTTATATACTTTCCTCGTTTATAG
Seq C2 exon
ATTTTCCTGTTGGATGAACCAACTGCTGGATTGGATCCCTTTTCAAGACACCAAGTATGGAACCTTCTGAAAGAACGCAAAACAGACCGCGTGATCCTCTTCAGTACCCAGTTCATGGATGAGGCCGACATCCTGGCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338:ENST00000269080:13
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(37.2=100)
A:
NA
C2:
PF0000522=ABC_tran=FE(29.5=100)
Main Inclusion Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAGTCACCATCTATAACAATAAGCT
R:
CCAGGATGTCGGCCTCATC
Band lengths:
310-1425
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains