HsaINT0000748 @ hg38
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69113618-69114937:-
Coord C1 exon
chr17:69114762-69114937
Coord A exon
chr17:69113738-69114761
Coord C2 exon
chr17:69113618-69113737
Length
1024 bp
Sequences
Splice sites
5' ss Seq
GAGGTAGGA
5' ss Score
8.24
3' ss Seq
TTGCGTATTTTCTCATATAGGTA
3' ss Score
9.48
Exon sequences
Seq C1 exon
GATCAGTTACCATCTATAATAAAAATCTCTCTGAAATGCAAGACTTGGAGGAAATCAGAAAGATAACTGGCGTCTGTCCTCAATTCAATGTTCAATTTGACATACTCACCGTGAAGGAAAACCTCAGCCTGTTTGCTAAAATAAAAGGGATTCATCTAAAGGAAGTGGAACAAGAG
Seq A exon
GTAGGAGGGCATGCTTGGATTAACTGACCTGCCAACCACTTACCAAATTAAATCATGACCACAGAATTCTCTTCAATGATTTATTTGCCCTGTTATGAATAAAATTTAGGCAAAGAGGTCCCATAACAAATATCGACTGCTTTAATGAGTGGTTAAAATTGCATAATATGAATCATTTTGGATTTTATTTTTATTTTTTATTATACTTTAAGTTAGGGTACATGTGCACAACGTGCAGGTTAGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCAGTAACTCGTCATTTAACATTAGGTATATCTCCTAATGCTATCCCTCTCCCCTCCCCCCACCCCACAACAGGCCCCCATGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGGCTGCATAGTATTCCATGGTATATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGTTTTCAAGTGTTGCTATTGTGAATAGTGCCACAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAGTTGCCACACTGACTTGCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAATGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATACTAACTGGTGTGAGGTGATATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTTTTGGCTGCATAAATGTCTTCTTCATTTTGGATTTTAAAAGTTGCGTATTTTCTCATATAG
Seq C2 exon
GTACAACGAATATTATTGGAATTGGACATGCAAAACATTCAAGATAACCTTGCTAAACATTTAAGTGAAGGACAGAAAAGAAAGCTGACTTTTGGGATTACCATTTTAGGAGATCCTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262:ENST00000284425:13
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(39.5=100)
A:
NA
C2:
PF0000522=ABC_tran=FE(26.5=100)
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:
AATCTCTCTGAAATGCAAGACTTGGA
R:
AGGATCTCCTAAAATGGTAATCCCA
Band lengths:
270-1294
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