HsaINT0000754 @ hg38
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69105462-69106211:-
Coord C1 exon
chr17:69106028-69106211
Coord A exon
chr17:69105629-69106027
Coord C2 exon
chr17:69105462-69105628
Length
399 bp
Sequences
Splice sites
5' ss Seq
CCTGTGAGT
5' ss Score
7.21
3' ss Seq
AATTTTTCTTTATTGTTTAGATT
3' ss Score
8.28
Exon sequences
Seq C1 exon
ATTTCGAACAAGTGGAGATGATAAGAGACTCAGAAAGCCTCAATGAAATGGAGCTGGCTCACTCTTCCTTCTCTGAAATGCAGACAGCTGTGAGTGACATGGGCCTCTGGAGAATGCAAGTCTTTGCCATGGCACGGCTCCGTTTCTTAAAGTTAAAACGTCAAACTAAAGTGTTATTGACCCT
Seq A exon
GTGAGTAGGAGAGTACTGTGGTTTTGTTAGATCATGAATTTCAAAAGAGGTTCAAACCAGAAGATAATTTAAAACTAGAACGCAATATCTGACATTCCTGCCACGGGGTGGATAAATTCAGCATTTAATTTTTCTGACAGTGGGAATACCTGTATGTTCACACTCGATTAAGCTTATACGTGCAGGTGTGTTTTGTTTTCATGGTTTGATAACCTGGTGTTTATATAGTAATGCCTTCTGGTACTGTGTAGCATGCTAGGGTATTATCTTCAGAATTTTAGCACCTAGAATCATGATTGGCATAAGGCAGGCTTGGCACTCAACAAATACTTGTGGAATGTCTTACTAAATAAATAAAATTCCTGGAGATTAATATGCTAATTTTTCTTTATTGTTTAG
Seq C2 exon
ATTATTGGTATTTGGAATCGCAATATTCCCTTTGATTGTTGAAAATATAATGTATGCTATGTTAAATGAAAAGATCGATTGGGAATTTAAAAACGAATTGTATTTTCTCTCTCCTGGACAACTTCCCCAGGAACCCCGTACCAGCCTGTTGATCATCAATAACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262:ENST00000284425:19
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=PU(1.4=8.1)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(15.5=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:
TTTCGAACAAGTGGAGATGATAAGA
R:
TTGATGATCAACAGGCTGGTACG
Band lengths:
342-741
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