HsaINT0000463 @ hg19
Intron Retention
Gene
ENSG00000144452 | ABCA12
Description
ATP-binding cassette, sub-family A (ABC1), member 12 [Source:HGNC Symbol;Acc:14637]
Coordinates
chr2:215848371-215851452:-
Coord C1 exon
chr2:215851266-215851452
Coord A exon
chr2:215848590-215851265
Coord C2 exon
chr2:215848371-215848589
Length
2676 bp
Sequences
Splice sites
5' ss Seq
CATGTATGT
5' ss Score
5.71
3' ss Seq
TATCATTTCTTCATTTCCAGTTC
3' ss Score
9.76
Exon sequences
Seq C1 exon
GTCCTGAATACATGTTTTCCTCTAACATCGAGCCTGAACCTAAAGATCTCACAGTCGGGGTTGCCCTGCATGGGGTCACAAAGATCTATGGCTCAAAAGTTGCTGTTGATAACCTCAATCTGAACTTTTATGAAGGGCATATTACTTCATTGCTGGGGCCCAATGGAGCTGGGAAAACTACTACCAT
Seq A exon
GTATGTTAACTTTTTGACATTTATTGCCATGGAAGCATGTTACAAAAAATACAGGTGTAAAAAAAATAAACTAACCTATGTTTATAAAACATAAAGTTATTACATTTCCCAGATGGAGGAAGATGGTTCAACTTGTATGCTATAGAATGGAGTCAAAATCAAAGGTTGTAATACTTTAAAAAATTTTTAATTCAGTGCCAATTTTGTAAAATAGGGAGTTTCTAATAAAAATAAATATTCTTGGCACCTCTTAGATAATAGGAAATTCTACAACATTGAGTTCATATTCTTAGGTAGAGACTATTGATTGGGGCTCATTAGTAACTGATCTCTTAAAGGGAGTATCTGTTTTCTGGCTCATCCCTGGTCTCTACCAAGCTGCACTGCTTCATACACCCACCCTGTTTCATTTATTTGCATTTCTAACCTGGCATATATATAAGTATGAAATTTTGCATCCTGATATAAACACACTTAGCCTCAGCTGCTCCTTCATGGGAAACCTTTGCCTTGACTCATAAAGAAACAAAGGAACCACCAGCTATCAGACAGCAATCAAAAAGGCCAGGAGCAGAACATAAGCTGTTCTTTCTCACTCCTCACCTATGTAGCATTTTCCTGTGTCAGAATGGAGAAGAGATTCAACTGTTTTTAAAGTGACATTCTTTTGAGTTATTTTTATGTGATTTGCCTCCAATGCTCCATATTCACTTAGTTGCTGAGTCAGCTCTAAGATGCTGCTGGTGCTCGAGCCCTTGTTTGAGAAAAAGGATCAGTTGCTGCATATCTTACTTAGTATCATCACGAATCAGCTCAGTGACTGCAAAAACACTGGAATTAATTTTTTTTTGTAAATAAAAGGGGACAAACGAGGTCATGAAATGAGTGAGCATACAGCCTCTGCTATTTGCATGGCCTGTTTAAAGTCAGAGTTGGCTTTCCAGGGAGAATACAATGCCAAAAAGGCCAGATTTTTTTTTAACTTTTATTTTAAGTTCAGGGGCACAAGTGCAGGTTTGTTACACAGGTAAATTCATCATGAGGGTTTGTTTTACAGATTATTTCATCACTCAGGTATTAAGCCTAGTGCCCATTACTTATTTTTCCTGATCCTCTCCTTCCTCCCACCCTCCACCCTCCGAAAGCCCCACTGTGTGGTGTTACCTTCTCTGTGTCCGTGTATTCTCATCATTTAGTTCCCACTTATAAGTGAGAACATATTTGTATTTGGTTTTCTGTTCCTGTGTTAATTTGCTAAAGATAATGGCCTCCAGCTCCATTCATGTTTCTAATAGGCAATAAGAGGCTAATGAAGAAAAGGAACAGAGAAGGCTCTTGAAGAGGCTATAATTTTAGCTGAGAATGCCCCCATTTTATTGTTCTAAATAGAAACCTTTAATATAAAGTATGTTATTTGTATTTCAGTGTTCATATGGGAAAACTGCATATTCCTTTGTTCATAATTTAATCCAGAAGTCTGCACTGCAAGGCACTGAGTAGGTTACTGAGACAAAGTGCTTAGAAAACAGGACCTTTCCTTGACCTCATGGAGCTTACATTATAGTGGAGGAGATGGGTATTAAATAATTGCCCAGTTTACTAACTATCTGAAAGATGATGAGGAATTATCCAGGTGAGAATATTCTAATCACAGTATAGAGAAAAGGACTAGAGATGACCAAAGAGCATGCGGGAAGTAGAGTTAGGAGCTTAGAGTGATGGGTTAGGCAGGTGGTGATGGTGATGGTCCCATGAGGATAGCTGTGAAAACGGTGAGATGGGCATGTAGTTAGGAGATTAAGATAGGAGGAGAGTGCAAAAATGACTTACAGATTCCAGTCTCGTGCAACCAGTGTATGAATTTATCACATGGGGAAAGAGGCAAAATCAATGAGGGTGTGGCTTTTAGGGTAAAGATCATGAGCTCGGTTTTAAACATACTGAGTTGAAGGACCCTGTAAGAAATCTCACAGAGAAGTGGTATTGTCTGATAGATATATAGAGCAATCCTGGAGCTGAATAATGAAGTCTGGGCTACAGATGTAAATTTGAGACATGCCAACCTGTAGATGCTAAGGGATGTCAGGAAAGTGCATGGGTATGCTCAAGGAGGGAGAACGTACTTGGAATTTAAAAGCCCAATCATGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGTGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATACAGTGAAACCCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAGGCCTGATCGTTTTTGTCATCATCATTTAGCATTTATGTAATACTCTGAATTATTAAAAACTTAAAAGTAATATTTCTTATTCCCATTAAATACCATTTTATTTCATAGTTTGCCCTTGACTGAGAAGATACACTGTATTTTTTCCTTCTAACAACTGAGATATAGTTATTCCTAATATCTAGCTTCAATGCTTGGCTTATACCTAATTTATCATTTCTTCATTTCCAG
Seq C2 exon
TTCCATGTTAACTGGGCTGTTTGGGGCCTCAGCAGGCACCATTTTTGTATATGGAAAAGATATCAAAACAGACCTACACACGGTACGGAAGAACATGGGAGTCTGTATGCAGCACGACGTCTTGTTCAGTTACCTCACTACTAAGGAGCACCTTCTCCTATATGGTTCCATCAAAGTTCCTCACTGGACTAAAAAGCAGCTCCACGAGGAAGTAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144452-ABCA12:NM_015657:20
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.048 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=PU(18.4=42.9)
A:
NA
C2:
PF0000522=ABC_tran=FE(49.7=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:
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)