HsaINT0000750 @ hg38
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69112183-69113360:-
Coord C1 exon
chr17:69113222-69113360
Coord A exon
chr17:69112274-69113221
Coord C2 exon
chr17:69112183-69112273
Length
948 bp
Sequences
Splice sites
5' ss Seq
CTGGTAATT
5' ss Score
5.99
3' ss Seq
CCTTGATTTCTTTCATTCAGATA
3' ss Score
9.14
Exon sequences
Seq C1 exon
ATTTTGCTTTTAGATGAACCAACTACTGGATTGGATCCCTTTTCCAGAGATCAAGTGTGGAGCCTCCTGAGAGAGCGTAGAGCAGATCATGTGATCCTTTTCAGTACCCAGTCCATGGATGAGGCTGACATCCTGGCTG
Seq A exon
GTAATTGTTGGTTTTATCTCAGTGTTACCATGATGCAATTGGGGAATTTAGAAGCGAGGTCTATTCCCAGGGTAAGAGCCCTGCTCTCATTATGGTGATGTTCCTACATTCTATAGCAGTCAGGAGGACGACAGGAGTCTAGTTCCACTGTGGAATTCCTTTCTGGTTGTACATTTGCTAGGTAGTGACAACTAATGAAAAATTCTGATTACCTTTTTTTTTTAGATCAGCTGTCAATTAATTTAAACATTCAAATCTTTTTTTATATATATTTAATTGAAAAATAGACACTTATTCTTTAGCATCAGAGTATACAGTATACCATGTAATTTATGTGTTTTTTTTTTCAGAAAGTATTGGAAGGTGCAGATAGACTGGTGTTCATGAGCTTATTTTATTTTAAATTTAATTTATTTGTATAAATTTAATGAGTACAAGTACCGTTTTGTTACATGGATATATTATGTAGTGGTGAAGTCCAGGCTTCTGGTGTATTCATCACCAAATAATATACATTGTACCCATTAAATAATTTCTCATTCCCCATCCCCCTCTGACTCTCTCACCCTTCCGAGTCTTCAGTGTCTATTACTCCACACTGTATGTCCATGTGTACCCATTTTTTAGCTCTCACTGATAAATGAGAACATGCAGTATTTGACTTTCTGTTTCTGTGTTGTTTCACTTATGATAATAGACTCCAGTTCCATCCATGTTGCTGCAAAAGACATGGTTTCATTCTCTTTTATGGCTGAATAATATCATGAGTTCATTTTAAATGCATCAATTTTAATATGTATTTCAAATGTTAAAATGCACACTAGATCTAGTTATACCCTGTTGAATACTTCTCCTTTGCACTTCTGAGCCTTGGCTCCTCGTCTTTCTTTACTAGAGAAAGAAGAAATGACCCCCAATATCTTTTCTCCCTTGATTTCTTTCATTCAG
Seq C2 exon
ATAGAAAAGTGATCATGTCCAATGGGAGACTGAAGTGTGCAGGTTCTTCTATGTTTTTGAAAAGAAGGTGGGGTCTTGGATATCACCTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262:ENST00000284425:15
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=PD(5.4=17.0)
A:
NA
C2:
NO
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:
TGCTTTTAGATGAACCAACTACTG
R:
GGTGATATCCAAGACCCCACC
Band lengths:
222-1170
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development