HsaINT0000776 @ hg38
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69134639-69136250:-
Coord C1 exon
chr17:69136092-69136250
Coord A exon
chr17:69134743-69136091
Coord C2 exon
chr17:69134639-69134742
Length
1349 bp
Sequences
Splice sites
5' ss Seq
CAGGTGACT
5' ss Score
6.6
3' ss Seq
GCTTTTCTTTGTGCTTACAGCTC
3' ss Score
9.48
Exon sequences
Seq C1 exon
GAACAAGTGTCATTGGGGCACCAAATAAAACACACATGGACGAAATACTTCTGGAAAATTTACCATATGCTATGGGAATCATCTTTAATGAAACTTTCTCTTATAAGTTAATATTTTTCCAGGGATATAACAGTCCACTTTGGAAAGAAGATTTCTCAG
Seq A exon
GTGACTTTCCATATCAAATATCATTATGGAATTTTTCATGTTTTCAACATAAAGAACAGAGGAGGTTGGGCAACAGAGATGCTTTCAATGACACATGAGAAAACAGGGAAAGCCCATTTCATTGCTGAACTTATTTCAAGGTCAATCGTATGTTCCTACTACAGGATGACTGCAAAAATTGTAGAGTCATCCAACATATATGTGTTGAGCATGCAGATGCATGTGTCAAAGGACACATGAGTAACCAAGACTGACAGGCCCCAGCCTCAGGTGAGATTCCAGGTTAGCAGCAAAGACAGACATTGAACAATTAATGACAAGTACAAGAAAAAGTGTTTCATGGGCACTTAGACCAGGGGTTCCTAATAGTGGGATTAGAGAAGTCCTACCTGGGGAAATGATGTTTAAAGGGAGACCAGAATGAATAGCAGGTGTGAGGTGCTAGAAGCATTGTGTTTCAGATAGAAGAAAGGTAATTGTGAAGACCCTGAGGTGAGAAAGGACATCTGTTCCTAGATCTGGAAGAAGAGCAGTATAGCTGAACAAGGAACATGAAAAGGAATGTAATGGGAGAGTGAAGCTGAAGTCACTCAAGTGCTACCTCCTGTGGCATCTTGTAAACCTAGGCAAGGAATAGCCACTGAGTCACTTTAATCACGGCAAAAGTGTAATTCGGTTTCCAAAATTAGGGGAACACTCCAGATATAGCCCGGGGAATAGATTGCCAAGAGGCTATGGAGAATGTCAAGAAACAAGGAGTCCATTATGGCTGGAGCAGAGTGTTTGCTTTCATCTCCTTTTTATTTTCTAAGACTTTCTAAGCATGCTGTGGTCTGCAAGAATAAAATTGCTTTATTAAAAACTTTCATTTATTTGCTTCCTTTTTCTATGTAGTTAAAAGTCTACTGGTGGGCCAGCCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGCACGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAAGCCTGTCTCTACTAAAAATACAAAAATTAGCTAGACAACGTGGCCTGTGCCTATAATCCCAGCTTTGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCCAAAAAAAAAAAGACAACCACAACAAAAACGAAACACCACCACCAAAAAAGTTTACTGGTAGAGTCTCCTCTAGATTGTTTTCTTTTCAATACTTGTTTCATATTCTCCAACTGCCCTCGTCCCATAATGTTGGCTGTGCTTTTCTTTGTGCTTACAG
Seq C2 exon
CTCATTGCTGGGATGGATATGGTGAGTTTTCATGTACATTGACCAAATACTGGAATAGAGGATTTGTGGCTTTACAAACAGCTATTAATACTGCCATTATAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262:ENST00000284425:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.003 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(13.6=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(8.7=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAACAAGTGTCATTGGGGCAC
R:
AATGGCAGTATTAATAGCTGTTTGT
Band lengths:
257-1606
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