HsaINT0000764 @ hg38
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69087353-69088258:-
Coord C1 exon
chr17:69088167-69088258
Coord A exon
chr17:69087474-69088166
Coord C2 exon
chr17:69087353-69087473
Length
693 bp
Sequences
Splice sites
5' ss Seq
CAGGTTGGG
5' ss Score
5.26
3' ss Seq
ACATTTCATTTTCTCCATAGAAT
3' ss Score
9.93
Exon sequences
Seq C1 exon
CCCTACTTTCAGACTTTGCTATTCGTTTTTGTTCTAAGATGCATGGAACTAAAATGTGGAAAGAAAAGAATGCGAAAAGATCCTGTTTTCAG
Seq A exon
GTTGGGGTGAAATTTAACTTTATACTTAATATCATATTTTAACATTCCTAGATGGTGTCTGTGCTATCATCTTGTTAATACAGATTTACATTTACAGTGGAAGCACATGTTGATTGTCATTAGGGAATGTGGATTGCTGCCTTACTGCCAAGAGATAGAACTCCCAGGCAGAGTTCTGGCTGTAAGCAGCTGTAAGAAACCTTCACTCCATCCAAAATTTAATAAGGACCCAAATATGCCATTCTCTCGTCTGAGATAATTGTGCATCCTTGAAAAGAAAAGATGGGAAGGAATCGATTTAGCAACATAGTTGAGTGTTTTAAAAATGGAGGGCTGTAGAAAGGGTGAGCAGTAAATGATGTTGAAAAAACATCTGGTGTGATGAAGATGAGCTCAGACTGAGTAGAGAAAATGAGAGTGACATGAATTTTAAAGAGAAAGGAGCAGTACCTGCTGACAGATTTGAAAGGGTCAAAGATTCTTACCAGAAGAATGGCAACAACATTAAGAAAAGGATTCTGGCTAGTGGGACAGGAGTTCTTGGCAAAAGCAGAAGCAATATTGACAGTCATCATCACATCATCACCTGCACATTAGAGAAGAGGACAGTAGTAAAATCACAGGAATGCTGATTTTTGACACATCTTTTAACAGCTAGAATACCACATGTAACACATTTCATTTTCTCCATAG
Seq C2 exon
AATTTCCCCCCAAAGTAGAGATGCTAAGCCAAATCCAGAAGAACCCATAGATGAAGATGAAGATATTCAAACAGAAAGAATAAGAACAGCCACTGCTCTGACCACTTCAATCTTAGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262:ENST00000284425:28
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=0.537
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(2.8=32.3)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCTACTTTCAGACTTTGCTATTCGT
R:
AAGATTGAAGTGGTCAGAGCAGTG
Band lengths:
206-899
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