HsaINT0000847 @ hg38
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68882599-68883882:-
Coord C1 exon
chr17:68883791-68883882
Coord A exon
chr17:68882720-68883790
Coord C2 exon
chr17:68882599-68882719
Length
1071 bp
Sequences
Splice sites
5' ss Seq
TAGGTTGGA
5' ss Score
1.48
3' ss Seq
ATGGATGGTTTTGACTCTAGAAT
3' ss Score
4.63
Exon sequences
Seq C1 exon
CCTTTCCTTCATTTTATCATTTTTCTTTTTACTCTTCGATGTCTGGAATGGAAGTTTGGAAAGAAATCAATGAGAAAGGATCCTTTCTTTAG
Seq A exon
GTTGGAAAAAACACATCAGATTTTTATTTTGTTGATCAATATCGTAAAATATTTTTCATGCATAAATCAATTCATTAACAAAGAGGTGCCGTTGTGCTAGGATAGGCTGGAGTAGGAACCATGTGCCCATACAAATAATACAGATCCAGATACCTAAACCCAAGAAGATTATGATCTAGTGGAAGAAACGGACCTGAAACATGGAGTATTAAGGCTCTATCTGACACTATCCACAGTGGAGCACTGGGGAAAGTTAAATGTGGCAGGTCCCATCTAACAAACAATATATTGCCAGTTGAATAAATGCCATTCATCCAGGAGGAAGGAACAGAATGATCCACTGGCCAAGGACAGCAATAGCTGTGTTCTTTTCCTGGTAGTGAGCATCCCAGCCAGTGGATCACAGACTGGTTCAGTTATTAATGGGACTTAAAAGCTGAGACTATTTTCGGCACCATACAAAGAAGAGTGACCATAAGCATCTTGCTCCCTCTGTGTCTCCCAAACCACATCAGTTTCATCTTTTGCTATTACAGAAAGTTGGATGGGAGACTGCCAAGATGAAAGCAGACCTTTAATAAATCTTCTGAGATCAGTATGAAGGAGGCACTCAAGGGAAGAGAGACTAGAATAAGTATATCCTGGATATTATCAGACTTAGAATGGAGAGGAAAAGTCAATATGCCACATATTCTGAAGAAATGAGAGATCAAGCATCTAACTTGTATTTTGCTAGAAACTCCTGATTACAAATATTCTGGCCCATTTTCCCCATGAAAACATAATGATGTCAACATGGTGGTGTCAAAGCCAGGGTTCCCAGAAAAATTACTTCATTGAGCTATGATATAAAAATTCTTCGTCAGCTATTAGGTTTCAAGTTGATATTGAAAAAAACATATTTCTATAGATAAGATAAGCAAGGAGGTTTTAAGGGGATGAGAGTTGTGAAGGGAGATTATGATGGTTTGTTAATTGCTCGTACTACTCAAACATATGCTTTAAATAATGCAACTTTTGATACAAAGATGAAAGCCAGAAATCAATATTAATGGATGGTTTTGACTCTAG
Seq C2 exon
AATTTCTCCAAGAAGTAGTGATGTGTGTCAAAATCCAGAAGAACCAGAAGGAGAGGATGAAGATGTTCAGATGGAAAGAGTGAGAACAGCAAATGCCTTGAATTCTACTAATTTTGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338:ENST00000269080:27
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=0.429
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(3.0=29.0)
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:
TTTCTTTTTACTCTTCGATGTCTGGA
R:
TTAGTAGAATTCAAGGCATTTGCTGT
Band lengths:
182-1253
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development