HsaINT0000718 @ hg19
Intron Retention
Gene
ENSG00000154265 | ABCA5
Description
ATP-binding cassette, sub-family A (ABC1), member 5 [Source:HGNC Symbol;Acc:35]
Coordinates
chr17:67305403-67309437:-
Coord C1 exon
chr17:67309233-67309437
Coord A exon
chr17:67305565-67309232
Coord C2 exon
chr17:67305403-67305564
Length
3668 bp
Sequences
Splice sites
5' ss Seq
ATGGTATTG
5' ss Score
2.77
3' ss Seq
ATTGTTATGATATCTTACAGTCA
3' ss Score
5.96
Exon sequences
Seq C1 exon
GAAATTCTTTTTCCACTATTTTTTTTATTTTGGTTAATATTAATTAGCATGATGCATCCAAATAAGAAATATGAAGAAGTGCCTAATATAGAACTCAATCCTATGGACAAGTTTACTCTTTCTAATCTAATTCTTGGATATACTCCAGTGACTAATATTACAAGCAGCATCATGCAGAAAGTGTCTACTGATCATCTACCTGATG
Seq A exon
GTATTGTGAGCTTATATATATATTCTGTTTATAATATTAAGCCTTTTCAATATTTATCAGCTTGCTTTATTGAATGAATAGCAGTCTTAACACTTAGAGATGTGTTCCTCCACCAAAGTCAGTTTTATAAAAATACTAAAATTATTTAATTCTGTTGCCTTATTTTTCTTGTGAAACATTAATTTATATTCTTGGTGGTAGGAAGCATATTTTATGTACTTTTATATTTAATTCTTAGACCATTTATAAAATAGTTTAAGTATACTTGTATAAGATACAAGCTTTGATGGGCTATTTCATTTTGATTCTGACTTTCATATAATTATGAAGCTAGCAATGTTTAGCTGAATGTGGTAGCATGTGCCTGTAGTCCCAGCTACTCAAGAAGTTGAGGTGGGGGGATCCCGTGAGCCCAAAAGTTTGGGGCTGCAGTGAACTATGATCATGCCACTTCATTCCAGCACTCCTTACTCTGGGCAACAGAATGGGACCCCCATCTATAACAATAAAAAATTTAAAAAGGAAGCTAGAAATATGTGATAAAGACTGTAAAGCAGTCACCTTTTCAGCTTACCATGCTTGTTTATAGAAGTGTATGGTGTAAACTGAAGAAGTACCTAACTTTGGAGACTACAACTATGACTATGGCTAAGTCCCTAACTCTGTTTTATTTATTTATATATATATTTTTTGTAGAGATGGGATCTTGCTATGTTGCCCAGGTTGGTCTAAACTCCTGGGATCAAATGATCTTCCTCCCTTGGCCTCCACCTAAAGTGCCACCTAAGTCTTTTTTCTCAATGTGCACTTCTCACAAAGAAATGAACTAGAAAACAGTGTAAGCAGTGAAGTGCCACTGAACTTAAAGTGGCTGTGAGAGAACCTAAAGCAAAAGCTGGAGAAAGTGACAGAAATTCTTATGCTATTAATGATTAAACAAGGAAGTGCTAAATTGTAGAAAATGACAGATTAGCATGTTATTTTTTGCCATATGGGATAGTTGTAATTAGCTTATATGTCATCGCATTATTGGATTTTATGTCATTGAATGGAAAGTGTTAATTATACAGTCAGAAGCCAGGTAACTTTTATTCCATTGGTTTCTTTCTCTGGCTATTTCTATTTAATATTTTGATTAAATACACTTCTTGTTATATGGTAGTGTATCATATTAGGTACAAGTAGTATAGATTACCATGAGAATTTAGTGTACAAGCTCAAAAAGCTGATTAAAAATGTTGAAATGAAATTCATTGGTAATTCTGAGTAGGAGGAAAGAATATAAACCAAAGAAATATGAGGCCAGGCATGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGAGCAGATCACCTGAGGTCAGGGGTTTGAGACCAGACTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTATCCAGCCATGGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGTTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTACCACTGCACTCAAGCCTGGCGACAGAGCAACACTCAATATCTCAAAAACAAAAAACAAAACAAAAAAAGAACAAACAAACAAAAAACAACTAAGTCAGTGTGTATTAGATGCCAAAATAGTGTATACATATACACAAATTTTTTTAGACTTCTGTATTTTTAACAACAGAACTATCTGAAAATGGGTTATGCATACATACATAACATGACTGGTAGGATGTTGAACTAACACCCTCTTTATTCATGTAAATCCTGGAGTTCCCTGTCCCTCTTAAAAGGCCTGGAAAATCTATTAATTAACATTTAAGTAATACTTTAGAATCTATGAAGCATTTTTTTTTTGTCTTTTTCTTCTTTTGTTTGAGATGGGATCTCACTGTCAAGCTGGTTTGCAGTGCTGTGATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGCTCAAGTGATACTCCCGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCATGCTACCTAGGCTGGTCTCAAGCAATCTACTCCTGGACTCAAGCAATCTACCTGCCTCCACCTTCCAAAGTGCTGGCATTATAGGTGTGAGGCACCACATCCAGCCTACAAAGCGTTTTGATGTTTGTTACTTCACTTGTTCTTCACAACAACCCAGTGTCATCAGCTAGGCATTGTAGATGAGGACACTAAAGTCTGAAGAGTTCAAATCGCCTGTCTGTGCTCACACAGTTAATACATGAAGACGTTAAGTACTAATTCTATATTCTTTCCATTTCACCACATGTTTGAAGCTTCTGTAGTGAAAATTAGTTGCTTGTAAACAAAACTACAAGAAAATATTTAAAAATTAGTCTTATCTGATGAGAAAGAATGATTACAGTATTTTTTCCACTTATCTTCTAAGAAAGGAACAAGCAATATTGGATTTGAATGACAATTTTTATTTAAGGAGGAGTTGTGTCATAGTTACTAAAATGCCTATTTAGTTTCTGAGAAGGATTGTGGAATTTTCTTTATAAGAAATATTTAAAAATAAAAAATTCATATATTTACTAAAAAGTTATTTTTGTGCAGGTGCACTGGCTCATGCCTGTAATCCCAACTAGTCCGGAGGCTCAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCTTGGGTAATGTAGTGACACCTCATTTCTACCAAAATTAAAAACAAAAAATTAGCCAGGCATGGTGATGAGTGACTATCGACCAAGCTCTACTCCAGAAGCTGAGGTGGGAGGATCTCTTGACCCCTGAAGTTTGAGTGCAAGATCCAGTGCACTGCAGGCTGGGTAACAGAACAAAGCCCTGTCTCTAAAAAAATATAAAATAAAATAACGAAGTTATTTTTTAGTTTAACTTCGAGATAGATAAATGAACTGCATTACTAATAATTTTTATAATTTTATTGCTGCCTGAAATTAGTATAATTAATTGAGGTTTTGAGAAACAGCAATTTCTTGAAGAAATATGAGTTCTGCATATTGTTTTATACTATATTTCATATATTTATAACATAAGTATAACACTGACACATTTCTGTAATCAAATGACAGCTGAGTAGTGTCTGCAACATTGTACCATTTTATTATTATTATTTTGTTGGAAGAATTGTCTTCTTTTTGTTTGTTTGTTTTTTTTGAGACATGGTCTCACTCTGTTGCCTAAGCTGGAGTGCAGTTGCTCAGTTATGGCTCACTGCAGCCTCGACCTCCTAGCTCAAATGATCCTCCCACCTCCGCCTCCCAAGTAGCTGGAAGTGCAGGCACACATCACTACACCTGGCTAATTTTTTTATTTTTTGGAGACAGAACCTCACCATGTTGCCCAGGTTGGACTTGAACTTCTGAGCTCAAGCAATCCTCCCATCTTGGTCTTCCAAAATGTTGGGATTACAGGTGTGAGCCACTGTGCTTGGACTGTTTTCATTTTTTAAGAAGTAAATATAGCAAAAGTGTTTATAAAATATTCCATTCATCAAAATAATTGTAAACTTGATCTACTGTATTGTGGTATTTTAATTTGTGAGCTAACTATATTGTTATGATATCTTACAG
Seq C2 exon
TCATAATTACTGAAGAATATACAAATGAAAAAGAAATGTTAACATCCAGTCTCTCTAAGCCGAGCAACTTTGTAGGTGTGGTTTTCAAAGACTCCATGTCCTATGAACTTCGTTTTTTTCCTGATATGATTCCAGTATCTTCTATTTATATGGATTCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265-ABCA5:NM_018672:2
Average complexity
IR-S
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=FE(23.9=100),PF126063=RELT=PD(85.7=34.8)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(14.0=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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)