HsaINT0000779 @ hg38
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69128619-69129751:-
Coord C1 exon
chr17:69129610-69129751
Coord A exon
chr17:69128805-69129609
Coord C2 exon
chr17:69128619-69128804
Length
805 bp
Sequences
Splice sites
5' ss Seq
TTGGTAAGT
5' ss Score
10.47
3' ss Seq
ATGTCTTCTCTCTCTTGCAGGTA
3' ss Score
14.77
Exon sequences
Seq C1 exon
GCTCTCCTGGGGTCTAATCTATGCTGGCTTCATCTTTATTATTTCCATATTCGTTACAATTATCATAACATTCACCCAAATTATAGTCATGACTGGCTTCATGGTCATATTTATACTCTTTTTTTTATATGGCTTATCTTTG
Seq A exon
GTAAGTTGATACATTTATTACCACTTTCTCTGCTTTAGATCTTAGCTATATGTAGCTAATATTAATGCCCTAGTAGGTTACTGCAATCACTACTTTCATGTCCATTGTGTGTGTGCATGTGTGTGTCCTTGTGTGTACTTGAAATAGTTTCTATGGAGTGAAAAAGTTATGTAATCCAAATAAAATTTGACTTGCCTTTTGCATAAAGGTCTGAACTAATGAAATGATGTATCAAAAAGAAAAAACAATGCTGACTCTAAAATATCAAAGTCTTTTCTGTATAATTATTGAGGTTATTTTTGAGGGGTGGACCCAATTTTTTTTCCCTTAAGGGTGCTCATCACATGGTAGCTGATCACAATATCTCTTCTCCCTCTAATATTCTGTCTCATACTTACTTCTCGTTTCACTCCGCTCTGCCTTCTCTGAACAAGAACCTCTAATTTCCATCTTCCAGGTTGTTTTCTGCAGAAAGTATGTAGATGCTCCTTCTTACATTAATTTAGCTTCATTACATTAATTTAGACCCAAGTCTGCATTTCTACCCTATCCTCAGCTCTCATTCCAGCTTTTCCCCCACCCTTTCCTAGCAACAAAAGCCTGGCATTTGAGTAGGACAAACAAGGATCCTTTTTCAAGAGAAGTTGAGGAAAGAACAGACTCATTATACCTTAATATTTTCACCACTTTCTCACTGATAAATATTTATGTTATGATATAAAAATCCTTATTTGATTGGGCTGCCAATGATTCTCAGTGAGCTAAATATTTTTTATAACAGCTGAATGTCTTCTCTCTCTTGCAG
Seq C2 exon
GTAGCTTTGGTGTTCCTGATGAGTGTGCTGTTAAAGAAAGCTGTCCTCACCAATTTGGTTGTGTTTCTCCTTACCCTCTTTTGGGGATGTCTGGGATTCACTGTATTTTATGAACAACTTCCTTCATCTCTGGAGTGGATTTTGAATATTTGTAGCCCTTTTGCCTTTACTACTGGAATGATTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262:ENST00000284425:7
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(12.1=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(15.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTCCTGGGGTCTAATCTATGCTG
R:
CTGAATCATTCCAGTAGTAAAGGCA
Band lengths:
326-1131
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