HsaINT0000714 @ hg38
Intron Retention
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69283953-69286037:-
Coord C1 exon
chr17:69285898-69286037
Coord A exon
chr17:69284073-69285897
Coord C2 exon
chr17:69283953-69284072
Length
1825 bp
Sequences
Splice sites
5' ss Seq
CAGGTATTA
5' ss Score
7.26
3' ss Seq
CTTTCATTTTTTTCTTTTAGGTT
3' ss Score
13.49
Exon sequences
Seq C1 exon
CATGTACATAGACAAATATTGTGCCACAGAATCTCTTTCTTCACTGGTTAAACAACATATACCTGGAGCTACTTTATTACAACAGAATGACCAACAACTTGTGTATAGCTTGCCTTTCAAGGACATGGACAAATTTTCAG
Seq A exon
GTATTACTTACTTTAAGTCTCTTGGTGTTTGAACTGGGATCCTATATTGGGAATAGGTTTCATTGATTTCCTTTTTGTTTCCTTCTCCATGTAGTATTGCCATGCTCCCAGGTGGCCAGAGTTAATATTCTGTTTCTGCTTTATTTTGTTTTTGAAAGCCAGAAAAAACACAGCAAAATTTTTTTTTTTACAAACACCATGCAAGAAACTGTAACTAATATATTAAATACTTAAGAAAATGTTAAAAAACGTAAAAATAATTGTGTTTACTTTGTTGTCAAGAAAAAAAAGAAATTGCTTGTAGGCCTCCTGAGAGTAAGGCATATATGTATATAGTTTATATACATTCTCAGGTTCTTTTATAGTTTCATGATTTCATAATGAATTATATGATAAATCCTTGAATTCTTTTAATTGAGGCATTATTTTTTAATTTTTTAATGAGGAACTCAAACTCAGTCTCCTTCCTCTGTTTAGGAATTGCTTGATAGACAAAAGGATGTTATTGATGTAAGTACATTGTGCAGAATTTTCATAGCATTTATCTCATAATCAGAAAAATACTTGTTTTTTTTTTAAAAAGAAATCACAAATTAAGTGGACTGAAGTACACTTGCCAACTTAATGCACTCTGCCTATCATTCTATCTACTTATACCCACCTATCTCCTATTCTTTAGTAACATTTATATGTGCTTATTTTCTACCAGATGCTGGTCTGTGCCTTTTGCAATTATTAGTTTATTTCATTATCCCAATATTTCAAGAAATACATGAGATAAATACTATTATTGCTTTCATTTTACAAATGAAGAAACTGAGACATAAAAAGATTTAAGGAACTTGCCCAAGGTAACACAGGTAGAAAGTGGTGGAGCTGAGTTTTGAACCCAGGCAAATCAGTTCCAGAACTCATGGTTTTCACCACCATACTTTGTTGTTGACTCTTACATTTCTTTGAAAAATTGTCACGGTATTTCACTGGATTTCACAGTGTCTTCTGGGATCTCCTGTAGGATGGACCGTAAGACCTCTTAAGGGAATTCATAATGTCAGCACTTTTTCTAATAATACCAAAATGTTATTTGCCTTATTGACCCTCAGCTTCTCATGATTATACAGTGTTTTCCAGAGACTGCATAATATGTGCTATCACAACAGATTGAATACAGAAACAAATATGAGAACCCATCTGTCTTCTGTTAAGACAGACATTAAAGAGATTTGCAGAAATGTAAAACAATATTCTCTTCTCATTATTTTTGTTTTAAAAGATGCAGTTTTTAAAAATAAAATTGTGTTAACCCGTAATAGGTTTACTTTTTTATTTTTTAAAAGATGAATAAGTATTTAAATGATTACTGTATGTTTTCTAATGTACATATTTATTTTATTATTCAATATAGTAACATTCTCAGTTTTAATTTCAAATACTGTAAAATTTTTGTTAGTTTATAATATGATATAGATATAATATGGTAATAGATATGATAATAGATATATTCCCATATATAAAATTTCTTTGAGGTCCTTAATTTATAAGAATGTTAAGCCTGTTACTTAGGCTGGAGTTCAGTGCCACAATCACAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTGAGTCTCCTGAGTAGCTAAGACTACAGGCTTGCATCAGTATTTATGCCTAGCTAATTTATTTTTATTTTTTGTAGAGATGGGTCATGATATGTTTCACAGGCTGTTCATGAACTTATTTTTAAAGGATATTTTACAATAATTTATGATAATATGCTTAAAGATATACTATTCTTTCATTTTTTTCTTTTAG
Seq C2 exon
GTTTGTTTTCTGCCCTAGACAGTCATTCAAATTTGGGTGTCATTTCTTATGGTGTTTCCATGACGACTTTGGAAGACGTATTTTTAAAGCTAGAAGTTGAAGCAGAAATTGACCAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265:ENST00000392676:17
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:
NO
A:
NA
C2:
NO
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:
ACATAGACAAATATTGTGCCACAGA
R:
TGCTTGGTCAATTTCTGCTTCA
Band lengths:
254-2079
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