HsaINT0000730 @ hg38
Intron Retention
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69254315-69255634:-
Coord C1 exon
chr17:69255543-69255634
Coord A exon
chr17:69254491-69255542
Coord C2 exon
chr17:69254315-69254490
Length
1052 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGA
5' ss Score
9.46
3' ss Seq
ATTGGTTTGTGTTTCTATAGGTA
3' ss Score
9.53
Exon sequences
Seq C1 exon
GAGAGATCTTAGGACTATTGGGTCCAAATGGTGCTGGCAAAAGCACAATTATTAATATTCTGGTTGGTGATATTGAACCAACTTCAGGCCAG
Seq A exon
GTATGATATATAAGAGTATAGGATATGTTGAATGTGATTTATATTGTTAATTAACATAAACTTTTAGTGACAAATTCGGATTTTATATTCAATTTTTATGTATATTTTTAGAATTTTTTGTACAGCCTGATCAAATTATGATCTTTTGGGTTATCTGTAAAAATAATGTGCATGGTGAAATTTTCATAGACACATGTAGACACACGCATATACAGTATTTCTGCTTTTGTAATGCTTACATGCGTGAGTTATTTGTCTACCAACTTAATGGAAGACAGTTTTATTAGCTTCAGGAGATATGGGAGCTTGTTTTGACCTGCCATCAGCTAGTCTTTTATTATAAGCATGTCACTGACCACTTTGTGGATACTTCACAAAACTACCCTGATCCCATTTCCTGCTTCTCTCCCCTTGCTTACTTTATGCCAGCCACACTAACTCATTGCTTTCCTGGAAAATGCCAGGCATACTCTTTTCTTTGGGTTTTTGCCCAAGATGTTTTCTTTGTTTGGCTATACCTTATACCCTAGAAATACATATACTAAATTCACTTACCTCTTTGGCTCAAATGTCACCTTCCAGTGAAGCTCCCTGATCATTAGAATTACATCTTGCTTTTTCATCCAACTCTGTATTACCCTTTCTGACCAAGTCTCTGAACTCTGACTTAGCTTTATATGTCCTTCCATCATCAAACATCAAAAAGGAGTAAAACATCTGGGCGGGTGCAGTGGCTCATTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCTCAGGAATTCAAGACTAGCCTGGGCAACGTAGTGAGACATCTTCCCTCCTAAAATTCAAAAAAGAAAAAAGCAATAGCCAGGCATGGTGGCACATGTTTGTAGTCTCAGTTACTTAGTGATAATAATAATAATGACAATAAAGGAGTACAAATCTGACTTGATATTAGTCTGGCTGTAGGAAGGGGTTTTAATTAATGTACTTGCCACTTCCTTCACAGTGTAAATTAAGCAAAATAATAAAAATTGGTTTGTGTTTCTATAG
Seq C2 exon
GTATTTTTAGGAGATTATTCTTCAGAGACAAGTGAAGATGATGATTCACTGAAGTGTATGGGTTACTGTCCTCAGATAAACCCTTTGTGGCCAGATACTACATTGCAGGAACATTTTGAAATTTATGGAGCTGTCAAAGGAATGAGTGCAAGTGACATGAAAGAAGTCATAAGTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265:ENST00000392676:31
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=0.034
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=FE(20.5=100)
A:
NA
C2:
PF0000522=ABC_tran=FE(39.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGAGATCTTAGGACTATTGGGTC
R:
ATGACTTCTTTCATGTCACTTGCAC
Band lengths:
262-1314
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