HsaINT0000458 @ hg38
Intron Retention
Gene
ENSG00000144452 | ABCA12
Description
ATP binding cassette subfamily A member 12 [Source:HGNC Symbol;Acc:HGNC:14637]
Coordinates
chr2:214989552-214991031:-
Coord C1 exon
chr2:214990702-214991031
Coord A exon
chr2:214989622-214990701
Coord C2 exon
chr2:214989552-214989621
Length
1080 bp
Sequences
Splice sites
5' ss Seq
ATGGTAAGT
5' ss Score
11.01
3' ss Seq
GCCGTTTCCTTTCTTCACAGAGC
3' ss Score
10.69
Exon sequences
Seq C1 exon
TACATGAAGATGATGGGTGTGAACTCCTGCAGCCATTTCTTTGCCTGGCTTATAGAGAGTGTTGGATTTTTACTGGTTACCATCGTGATCCTCATCATTATACTCAAGTTTGGCAATATTCTTCCTAAAACAAATGGGTTCATTTTGTTCCTGTATTTTTCGGACTACAGCTTCTCGGTTATTGCCATGAGCTATCTTATCAGTGTCTTCTTCAACAACACCAACATTGCAGCTCTGATCGGAAGCCTCATCTACATCATTGCCTTCTTTCCATTTATTGTTCTGGTTACAGTGGAGAATGAGTTGAGCTATGTATTGAAAGTGTTCATG
Seq A exon
GTAAGTCAACCGTTGGAATGGCAGAGTGGGAAATTACCCATTTTTGTTTGTTTGTTTGTTTGTTTTTGGATTCTCAGACTGAAAGTTCACTTATCTTAATTTGAAATTCAGTGAAAGCAAAGTAAGCTTAATGTCCTAATGATAGCTTTTCTTACATCACTGTATACCATACAAGACAATGAAGAGCTTACAAAACCATGATATGTGATACTGTTAAGAAATAGTTCCTAAAGAAAGAACAGTTAAAATGTCATACATCATGTTTTAGAGGTCTTCAAGAATTCTGACTTCTCTCTGGACCAATTCCTGAAACGTCTTGGAGCCTCTAGTATTGGAATTATTCTCATATGTGAACAATTTTCATGGTTCTCATGACATATAATATAGCTTAAAGGTGTAAAGACAAATGCACCAACAGCATATAAGCAACCTTAAATTCTCTCCTGCCTTGTCAATTCAGAAGCACTAAATTAAGAATTTTAATTAAAGCATTAAGATTACTGACTGAAATTTAGAAAGCAGAAGCTAATTTCATCATATTAAAACTTTGCTATTTATGGAAATAAAAAGTAATGAATAACTTTATCTAGCATTGACAACTTTGGGTTTAAACAATATTTAAATTTCTAATTTGTTGCAATTATCAATATTCAATCAACTGATATTTTAGTATATTTTTATTCATAGTACTTCTATTACCTGAAATAAATGTATGGAGTGAAAATGCCTTCTGGCCCTTAACATTTTTGGTAAATTTTAGTCTTAATACTGAATTACTCCATAATTAACTATTTTATTACTTGCTGAGCAACATTTAATGAGTTCAAATGTATATTTTGATTTTTTAAGGAATGGTTTTCAAGTTGTAATTTTCCTGTTTTTGTTTTCTGCTATTCTCTCTGCTCTTGCTTCACAGTTGTAGCATGGTTGGTAAGGGACTGCTGTATTTTTAAATATGCTTAGAGAATGAGCATCAATTTTATCTATACAAATGTCCAAAGTTTTAAGTATTTTAGGATACCTCTGGGTGAAATACATGAAATCTACAAGAACTATCATTGCCGTTTCCTTTCTTCACAG
Seq C2 exon
AGCCTGCTGTCCCCAACAGCATTCAGCTATGCAAGCCAATACATTGCACGATACGAAGAACAGGGCATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144452:ENST00000272895:24
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:
PF126982=ABC2_membrane_3=FE(28.7=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(6.1=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:
AGCCATTTCTTTGCCTGGCTT
R:
CGTGCAATGTATTGGCTTGCA
Band lengths:
350-1430
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