HsaINT0000722 @ hg19
Intron Retention
Gene
ENSG00000154265 | ABCA5
Description
ATP-binding cassette, sub-family A (ABC1), member 5 [Source:HGNC Symbol;Acc:35]
Coordinates
chr17:67257776-67261046:-
Coord C1 exon
chr17:67260876-67261046
Coord A exon
chr17:67257890-67260875
Coord C2 exon
chr17:67257776-67257889
Length
2986 bp
Sequences
Splice sites
5' ss Seq
GTGGTAAGT
5' ss Score
10.36
3' ss Seq
AACATATTTCTGATTTACAGGTT
3' ss Score
8.45
Exon sequences
Seq C1 exon
ATCAAAGCTTATACTCAACTTAAACTTTCAGGTCTTTTGCCATCTGCATATTGGATTGGACAAGCTGTTGTTGATATCCCCTTATTTTTTATCATTCTTATTTTGATGCTAGGAAGCTTATTGGCATTTCATTATGGATTATATTTTTATACTGTAAAGTTCCTTGCTGTG
Seq A exon
GTAAGTTAACGTTAGTTGTACTCATGCTATTTATAGATAGAATGTTATTTAAAATCTGTTATAAACATGACAGTTGACTTATTGCATAATTTGGTTATTAATTTGTTAAAGAAAATAGAGCAAGTGTGTCTGGTATTTAATACATGTAATCATTTTATATGATAAGTGACTTTTAAAAACAATAACTTACCACCATTTTAAAATAATTTCTTGAAACTAAAGTGATCTTTCATGTAGACCACCTACTTGGGTGTAATCAGGAACGTTTTAATATATTCCTTCCTTAAAATGCCTTCCTTCGTTTTTCTTATGCCTGAAAATAATTTCACAAAGGATAAGCTCTTTTATTCCATAGTTTAAAATATAGCTTAACATTTCTCTATCTCAATAATGGGCAGGCTGCGAGCCAGATGAAGAACACAACTCCATTTACAATAGCCACAAAAAATTAAAATACCTAGGAATACATCTAACAGAGGAGATGAAAGATCTCTACAGGGAGAACTACAAAACATTGGTGAAGGAATTCAGAGATGATACAAGCAAATGGAAAAAAATTTCATGCTCATGGATTAGAAGACTCAATATATTAAAGTGGCCATACTGCCCAAAGCAATCTACAGATTCAACACTATTCCTATCAAACTACCAACATTATTCATCACAGAATTTTAAAAAGCTATTCTAAAATTCATATGGAACCCCAAAAGTACCCAGATGGCTAAAGGAATCCTACATAAGCTGGGCGCGGGGGCTCATGCCTATAATCCCAGCACTCTGGGAGACCGAGACGGGTGGATCACGAGGTCAAGAGATCAAGACCATCCTGGTCAACATAGTGAAACACCATCTCTACTAGAAATACAAAAAAATAGCTGGACGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGTAGAGGTTGTGTTGAGCCAAGATCGTGCTACTGCACTCAAGCCTGGGCAACAGAGAGAGACTTTTTATCAAAAAAAAAAAAAAAAAGGAATCCATGTAAAAAGAACAAAGCCAGAGGCATTTCATTACCTGACTTCAAACTATACTATAAAGGCTCCAGTGACCAAAACAGCATGGTATTGGTACAAAAACAGACATGTAGACCGATGAAACAGAATGGAGGACCCAGAAATAAAGCCACACATCTATAGCCATCTGATCTTCAACAAAATTGATAAAAATAAGCAATAGGAAAGGACTCTGTGTTCAATAAATGGTGCTGGGATAGCTGGCTAGCCATATTCAGAAGAATGAAATTGGACCTCCACCTTTCACCGTATGTAAAAAGTAACTCAAGATGGATTAAAGATTTAAGGGTAAGACATCAACTATAAGAATTCTACAAGAAAACATAGGAAATACCATTCTGGACCTTGGGAAAGAATTTATGGGTAAATAAGTCTTCAAAAGCAATTGCAACAGAAATAAAAATTGACAAGTGGCACCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTATCAACAGAGTAAATGGATAACATACAGAATGGGAGAAAATACAAACTATGCATCCAACAAAGGCCAAGTATCCAGAATCTATAAGGCACTTAAACAATTCAGCAATCAAAAAACAAAACTCCATTAAAAAGTGGGCAAAAGATATGAACAGACACTTCTCAAAAGAAGACATGCAAATGGACAACAAATGTATGAAAAAATGCTCTACATCACTAATCATCAGAGAAATGTAAATCAAAACCACAGTAAGATACCATCTCATGTCAGTTAGAATGGCTATGATTAAAAAGTCAAAACCAACAGATGCTGGCGAGGCTGCAGAGAAAATGAAATGCTTATATACTCTTATATACTCTTGGTGGGAATGTAAACTTCAGCAGCCATGGAAAGCAGTTTGGAGAGTTCTCAAAAAACTTAAAACAGAACTACCTTATAACTCAGAAACCCCATTACTGGGTATATATCCAAAAGAAAATAAATCATTCTACCAAAAAGACACATGAGTATGTTCATTGCAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAGGAGCCCATTGACCAGTGATTGAATAAAGAAAGTGTGGTACATATACACCACGGAATACTGAGCAGCCATAAAAAAGAATGAAATTATGTCTGTTGCAGCAGCACAGGTGCAGTTGGAGGCCATTATTCTAAGTGAATTAACAAAGGAACAGAAAACCAACTATTGCATGTTCCCACTTATAAATGGGAGCTAAATTGGGTAAACATGGACATAAAAATGGCAACAGTAGACACTGGGCACTACTAGACGGGGGCAGGAGGAAGGGGAGCAAGGGTTGAAAAACTAACTGTTAGGTACTGTGTCCAGTACCTAGGTGACAGAATGAATTATACCCCAAACCTCAGCATCATGCAGTATACCCATGTAACACACCTGCACATGTATCCCCTGATTCTAAAGTAAAACTAGAAATTACTTAAAATAAAATATAGCTTAAAATATCAAAGAAGAGACTGATTTGCATTCATGTTCACATGTAAATGACTGACAGCAGGCCCTTTCATTGATTACTTTATTAGGAAAAAGGGAAAACAGAGTTACATGAGGTTGATGCTGAAAGTAAATTTACCGATTTTGTCAGAGATCATAATGACCTTATATATTAGTTTCTGCCATATAAAATAATAATGTTTTTCTTACACATTAAAAAATAAAGTGCTGTATATTAAAATAGTAGCTAATATTTGAGAGAGAGAACGTTGTAGCTAGCTATACTTGCTTTTTATAATAATGAGAGATAGTATTTTACTTGGTACAAAAAACTACAAGTAGTGTTCAGTTTAAATGATTTATTTAGGATTATATTAATAATTTCATATTTTAATATGGCTAGTATTTCATGTCATGTGTATTGCAAGCTATTCATATTTTTATAGAAACATATTTCTGATTTACAG
Seq C2 exon
GTTTTTTGCCTTATTGGTTATGTTCCATCAGTTATTCTGTTCACTTATATTGCTTCTTTCACCTTTAAGAAAATTTTAAATACCAAAGAATTTTGGTCATTTATCTATTCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265-ABCA5:NM_018672:23
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(29.3=100),PF128222=DUF3816=PU(26.0=78.9)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(19.4=100),PF128222=DUF3816=FE(21.4=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)