HsaINT0000777 @ hg38
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69133641-69134742:-
Coord C1 exon
chr17:69134639-69134742
Coord A exon
chr17:69133868-69134638
Coord C2 exon
chr17:69133641-69133867
Length
771 bp
Sequences
Splice sites
5' ss Seq
GAAGTAAGT
5' ss Score
9.82
3' ss Seq
TTGTTTAAACTCTACTTTAGATC
3' ss Score
7.68
Exon sequences
Seq C1 exon
CTCATTGCTGGGATGGATATGGTGAGTTTTCATGTACATTGACCAAATACTGGAATAGAGGATTTGTGGCTTTACAAACAGCTATTAATACTGCCATTATAGAA
Seq A exon
GTAAGTGCTTGATTGAAAAGTTCTACTAATTAATGTCAGCTACTTCCAGAGACCTCAAGATTTTTGATGAAAGATAATTGTCTTAGTCCGTTTGTACTGCTACAACAAAATACTTGAGATTGGGTAATTTGTAAAGGACAGAAATTTATTTCTGGAGGCTGAGAAGTGCAAGATCAAGGTGTTGGCAGGCTCAAAGACTGGTAAAGGTCCATTCCTCATAGATAGCACCGTCTAAGTGTCCTCACGTGATGAAAGAATGGAGAGCAAAAACTGCCTCAGCTAGTTCCCTCTAGCCTTTTACAAGGCACTAATCCATTCATGAGGGCTCCACCCTCATGACCCAACCACTACCCCAAAGGCTCTCCCTCCTAATACCATCACAATGGGAATTAAGTTGCAACAAGAATTTAGGAGGGGCCACTTTCAAACCGTAGCAATGATATATAATCAGATTTTCCTGTGGTTATATAATGAAGCAGATATTCAGACCAAGGAACACATTGCATATCTATTTTAAAACTTTAAAACCAATTTTATTGGTTGTAAAACTAATTTTGAAGTGGTTGTAAAGACACAGGAGGCTGCAAATGTAATGTACAGAGAAGTCCATGTACCCTTCATCCAGTTGCCTTTACTGGGAACATCTTGCATAACTACAGTACAGTAAGAAAAATTGGAGAACCGACATAAGTAAAATACACAGAGCTTACTCATAGTTCACCAGTTTCTATCTTTTAAATAATAATTATGTTTGTTTAAACTCTACTTTAG
Seq C2 exon
ATCACAACCAATCACCCTGTGATGGAGGAGTTGATGTCAGTTACTGCTATAACTATGAAGACATTACCTTTCATAACTAAAAATCTTCTTCACAATGAGATGTTTATTTTATTCTTCTTGCTTCATTTCTCCCCACTTGTATATTTTATATCACTCAATGTAACAAAAGAGAGAAAAAAGTCTAAGAATTTGATGAAAATGATGGGTCTCCAAGATTCAGCATTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262:ENST00000284425:5
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:
PF126982=ABC2_membrane_3=FE(8.7=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(19.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCATTGCTGGGATGGATATGGTG
R:
ATGCTGAATCTTGGAGACCCA
Band lengths:
326-1097
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