HsaINT0000829 @ hg38
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68922242-68924869:-
Coord C1 exon
chr17:68924701-68924869
Coord A exon
chr17:68922301-68924700
Coord C2 exon
chr17:68922242-68922300
Length
2400 bp
Sequences
Splice sites
5' ss Seq
CAGGTAATA
5' ss Score
8.55
3' ss Seq
GTATCTTTTCTTTTTTTCAGAAT
3' ss Score
10.97
Exon sequences
Seq C1 exon
ATGAATATGGACATCGACGTCCACCTTTGTTTTTCCTGAAGTCCTCATTTTGGTCTCAAACACAAAAGACTGATCACGTGGCCCTTGAAGATGAAATGGATGCCGATCCTTCATTTCATGACTCTTTTGAACAAGCGCCTCCAGAATTCCAAGGGAAAGAAGCCATCAG
Seq A exon
GTAATAAGGCTGCAGGTGGAGAACAGGGCAAAAAGGCAGGAAGCTAAGAGATAGCACCTGAGGCAAGCAGTGTTCCCTTTTGTGCTCTGTAGACAGTTCCCACCTGTCCTCACCTATGCTGCTTCTGTCACTTTCCATCTCAAGTTCAAAGAAAGATCCCTTTACCAACCCCTTACAGCCTAACATTGTCGACATTTACACTAAATAAAAGCTTAAATTTTACCAGCTAAGATAATTCAACAAAACCCTTGCCCGGATTCAGTCTTTTACTTGTTTCTCTTCACCCTCATTGCTTTCTGGGTCTCAGTTATTCACTCTTTGTCCCCACCTCATCTATCTCCCTTTTTTTTTTTTTTGACGGAATTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGTTGGAATTACAGGCACCCACCACCAAGCCCAGCTAATTTTGTGTTTTGAATAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTTAACACCCAACTTCACTTGGCCTCACAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTTTTCTCTCCACTTTTTAAACTTCTTATTTTTCTTCTATTTTTTGTCCTTTAAAAGAAGATGAAAGAGTAAGAAAGAAGGACAAAGAAAAGGCCTAGAGGTAGATACAAAGGGAATTCAGGGAGAGGTGCCCTGCAGAGTTAAGCCTATCTCATTCTGTGTGACAACAAAATGTCCATTTTGTTTGGTGCTGGTGACTTTTATTTCTAGATATGAGAAAATAGGAAGAAAGTCCTTAAGATCCTTGGCTGTCCAAGTCATACTCATCATCAATGACCAGCCTGTGTCAGTCCCCTGTGAAATGTCTCAGATTATCCCAGGTTGCTGAACTTCTAAGGAGCCCATTTCATTTTGTTCTTTTAACCTGTTCCATATTTATCTTCCATATTTTTATTTGTCCCACAACTAAGCTAGGTTTACTCTAGCAGAGCAGCTCAGAGCAAAACAGTGGCTTTATTTGAGGTGCTTGTGTGTTTCTTTTTGTTCCTCTTTGATCGCTTTAACACCTTGCCCAATTATAAGTGCTGTGGAATGAGAGTAAAATGGAATTTAAAATAAGAATATTTAACGAGACAGTTTTGGCCAGGAGCGGTGGCTCACACCTGCAATCCCAACACTTTAGGAGGCTGAGGCTAGTGGATCACTTCAGCTCAGGAGTTTGAGACCAGCTTGAGCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAAGCATGGTGCTACACGTCAGTAATCCCAGCTACTTGGGTGACTGAGGCACAAGAATCGCTTGGACTCAGGAGGCAGAGGTTGCAGTGAGCCAATATTGTGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCTCTCTCAAAAAAAAAAATAATAATAATAATAATATCTAATTAAATAGCTTTATATGAATAGAGACTGAATATTTTATGAATAGTAGATGATAAAATAAGAAACATAAATTTGATTTGGCCTATGGATTATATACTTACCTGGTAGAATAAAACCATGCAGATTTATCGCCTAGAATTCCAGACCTATAATAGTACTAAGCATAAGTTAATTTCATTCCTTTCTGTAGCCATCATCACCATGTAACCAATATCATCTTATATGCACTGTACATGCGAGATGAAATATTTTACTTGCCTTCCAACACAGCCCTAAAGCCCTGCAAAAATTTTCAGGTTGTGAAACCTGAAGCTGATCTGGAATAAGTACGTTGGTTAAGGTAACAGAGCACTAAGTGGTTGTAATGGGATAAGCTTAGATGGGCAGTACTGTGAACCCCATGCTCTTGCTATTATGATACATTGATTGTCTTTCTTACTGTAGTTCTTAATGAACCTTGGGAGACCTTGAATCAGGATGGCCAAAGATCTTTCCAACCTGTGCCAGTGGTTCACAGGAGCCTTTGGGTATCGAATGTCCATGTCATCTCTTGGCCTTGCTTTCTTAGCTTTGCAGTTCAGAGGTGATCCCGTTCTCAATACTAATATTAGCTTATACCCCAATCTATGGAACCTTTGCTTATGGGTCCCAATCACAGTGAAATTCTTATAACTCCTCACATGTAACTCCTCACATGACGCCAATGTGCAGACAGGGTTGGCAAGCGGTATTCTAGCTGATTCTGTCACACAGCTATGACTGTGTGAGAGTGAAGACCCAGATCTTCATGTATCCTGAAGTTAAGATTTATCCAATCCTGTCTACCAAACTGGAAATTACAAACTGAAGAAAATTGTCACTTTGAAGTATCTTTTCTTTTTTTCAG
Seq C2 exon
AATCAGAAATGTTACAAAAGAATATAAAGGAAAGCCTGATAAAATAGAAGCCTTGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338:ENST00000269080:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.177 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0000522=ABC_tran=PU(1.3=9.5)
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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