HsaINT0000749 @ hg38
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69113222-69113737:-
Coord C1 exon
chr17:69113618-69113737
Coord A exon
chr17:69113361-69113617
Coord C2 exon
chr17:69113222-69113360
Length
257 bp
Sequences
Splice sites
5' ss Seq
CAAGTAAGT
5' ss Score
10.08
3' ss Seq
TATATCTTCATTCTCTGTAGATT
3' ss Score
9.65
Exon sequences
Seq C1 exon
GTACAACGAATATTATTGGAATTGGACATGCAAAACATTCAAGATAACCTTGCTAAACATTTAAGTGAAGGACAGAAAAGAAAGCTGACTTTTGGGATTACCATTTTAGGAGATCCTCAA
Seq A exon
GTAAGTGAGATTATGCATGGGGAAGGAAGCAGGTCGAATGTCTGCAAAATGTCAAGTTCTTTTACCACTAAAAGTGGTAGAGCTTTCATTGTAATGCATCAAGAGAGAACCTGCTATGTTTAACTATAAATAGAAGTATATTGGAGAAAAATGGCTGGATGGTTATTATTTTATGGTATTTATTGTTTTTCATGCTATCTTCTGGATACAGTTAATGTGAAAGAGAGACATATTTTATATATCTTCATTCTCTGTAG
Seq C2 exon
ATTTTGCTTTTAGATGAACCAACTACTGGATTGGATCCCTTTTCCAGAGATCAAGTGTGGAGCCTCCTGAGAGAGCGTAGAGCAGATCATGTGATCCTTTTCAGTACCCAGTCCATGGATGAGGCTGACATCCTGGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262:ENST00000284425:14
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(26.5=100)
A:
NA
C2:
PF0000522=ABC_tran=PD(5.4=17.0)
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:
CGAATATTATTGGAATTGGACATGCA
R:
AGCCAGGATGTCAGCCTCATC
Band lengths:
252-509
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