HsaINT0000839 @ hg38
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68940758-68942039:-
Coord C1 exon
chr17:68941939-68942039
Coord A exon
chr17:68940963-68941938
Coord C2 exon
chr17:68940758-68940962
Length
976 bp
Sequences
Splice sites
5' ss Seq
ATGGTATGA
5' ss Score
6.56
3' ss Seq
TTTTTTCCTGTATTATATAGGAA
3' ss Score
9.59
Exon sequences
Seq C1 exon
ACAAGATGAGGAAGAGAAAGATCAGTGTGTGTCAACAAACTTGGGCCTTATTATGCAAGAACTTTCTTAAAAAATGGAGAATGAAAAGAGAGTCCTTAATG
Seq A exon
GTATGACTCAATATCCGTGTTATTCTCTATTTATGATAGGAAAATACGTGTTGCCTGGGAGTTATCTATGCCATGTGTATCTCCCCCGACACATACACCAAAAACACTAAAATACAGCAACGTTTATACAACAGAAAACGCTATTCTTCAGGCCATGAATCTGTTTGAAGATATTTCAGTTGACATGGGCTCATAAATTGAGGTCTGAAACCACTGAATCTGGTAGCAATTGAGAAATCAATACATGTTTTAAAAGCCAATGGTCACATTTGTTACTAGTGTCCCCAGTCATGGAGACTAGGGTTAAGATACTGACATTCCAAAGATATGGTAAACAAACCAACCCACCACAATGGGTAACTGGCATTTTCTCTTTGAGATCTTTTTCTCTTCTTGAAACAATTAGTTTTCTTCAAAAAAGTAGAAAAGTTGGAATTGTATTAAATTCCAAGAAGAAAATTAGCATTAGCTCTTATAATCTTACCATATAAAAAATCTTGATTAAACTTTGGTATATTTTAAAAATCAGATCGATATAGCTAGGTAGCATTTTTAACTAAATTGGAATTCCACTATACATACATCGTAAAGTTTTTTCCCCTAAGATCATGCATTTTGGAAATAAAGTGATTTCTTATTGGGAGTTCGCATGTGATCAGGATTTATAACTAACGAAGATACTATCCCTCCGATACTATCTTATTATTAGAATTATCAGAATGCCCTTACAAACTGGTATACTGTTGAGTTTGAAATTCCAGAATCTTGGCATGTAACCAGTATATCATTACTAAGCTAGCAATGCCTTGGAACTATCTCTTAAAACACATTGACTTTCAGCAGACTTTAAACAGTTTATAATATGGGATATATTGAAGTTAGAAAAGTAAAAAAGAGGCAAACTTTATGACAAAATGATTGTGGATGACTAATTTTAAATAAGACTTTTCTTTATCTTTTTTCCTGTATTATATAG
Seq C2 exon
GAATGGCTGAATTCATTGCTCCTACTACTTTGTTTGTATATATATCCTCATAGTCATCAAGTAAATGATTTTTCTTCACTGCTTACCATGGACCTGGGACGGGTAGATACATTTAATGAATCCAGATTTTCTGTTGTATACACACCTGTCACCAACACGACCCAACAGATAATGAATAAAGTAGCCTCTACTCCCTTCCTGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338:ENST00000269080:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PU(1.0=12.5)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(17.4=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAAGATGAGGAAGAGAAAGATCAGT
R:
CCAGGAAGGGAGTAGAGGCTAC
Band lengths:
303-1279
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