HsaINT0000474 @ hg38
Intron Retention
Gene
ENSG00000144452 | ABCA12
Description
ATP binding cassette subfamily A member 12 [Source:HGNC Symbol;Acc:HGNC:14637]
Coordinates
chr2:214966848-214968807:-
Coord C1 exon
chr2:214968720-214968807
Coord A exon
chr2:214966954-214968719
Coord C2 exon
chr2:214966848-214966953
Length
1766 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
3' ss Seq
CTTCTTTTGGAATTTAATAGGTA
3' ss Score
6.63
Exon sequences
Seq C1 exon
ATATGGAGGTTGGAGTTTTGGGCTGCCTTTGACAAAAGACCTTCGTTTTGATATAACAGGAGTCCCTGCCAATAGAACACTTGCCAAG
Seq A exon
GTAAATTTTGATCTTTTTTCTGGAATGTTATACAAATGAGAAGGTGAAATTGATATGTTTAATCATTTTCATGAAGTGAAAACAAAATATGGGTACAATCGATTTGGCATTGTGCATAACCCAGGGCACAGTGGTTCCAATTCTGTGTATGTACCCTAGGGAAGCATGTACACATTAGCATCAGGACACACGTACAAATGTGTATACATAGTAGCATTTCTCATAATAGCCAAAAACGCAACCCAAAATGCCCACATGCAGAATATAGAAATAAACTGTTTCATATTCATTCAATAAAACTTTCAGCAATGGAAATGAAAGAACTCAGCTCCATGTAACAAGCAAGTTAAATCTCCCAAACATTATTAATAAGGAAAGAAAAGACAAAAAGGAATACATTGACTATGATTACATTTACTGTAAACTTTGAGAGTTTATAGGCAAAACTCAACCGTTTGTTTAGGGGAAAGGGAGGGTATTGTGATTTGGAAGGACACAGAGGGTCAGGGAAAAGGCATTCTGGAGGCTGGCAATTCTTATTTCTCAACCCGTGTATAGTTTAAGGGATGTACTTCCTTCAGAATTTTTTTGGTAACACTATACTTTATTACCTGCACTTTTCTTGTGTATACGTCAAAACTATTTAGAAATGAAAATGTATATGTTTAGCCTTGCTTCTTAAAGAACCTGGAAACTTTAACCAAATTTAATGGAGATAAATAATTCTGCTCACTTATTTTTCCTTTTAGATTATACCTAAAATGAGGTAGAGTCACGGGATCAGATGCATATTCTTACGTATGTGATCAATGGTAGTCATAGGGATTTAAAATTGTCTACACATATTTCTCATCTGGTAGTAAGAGACATACACAGTCTTTGGGAAAGTGGGGGAACTAATGTCCATTTCATGATGATTATGTGCCAACCACGAGTATCATCTTTTACACAAACTACCTAATTTTCTGCTCACAGCATCCCTGTGTGATAAATATTCCTGAGTCTATTTTAGCTGATTTTTACAGTAAATCATATAGAAAGTAATTAGTGGTGCTGGGGATTTCAGTGCTTTCCTTTTCTTTCTTCCTCTCTTCTCTCTCTCCACACACACAGTAAATATTCTTGCACAAACATGTGAATTTCTAATATAAAATCATTTCTCTCAAAATCAACTTTGCTATTTTGAATTAGTAATTGGGTTTCTTGAATTGAGGTTCACCAGTATATTAAATCTCTCTGTTTATGACATAGAAGGTAAAATCGCGCCCCATTTGGTAGGTTATAATTAGGAATCAAAAATTAGTGGAGGAATGTCAAGGCTTTCAATCTTGTGCTAAGGACACCATGCGTGTATATGTATTTTATTTATTTCTCCAGCTTGGTCTATTCCATTAGTTTTTATTACCATTATTGGCAGCCAGGATACCTTAGTTCTAGTCTCAGAATCCCATGGATCTGCCACAGGGATGTAGATAATGATTTCTCCAGTTTATTTCAAGCTTTGCCTAGAAGAGATCCTGAATAACTAATAATTTAGTGCTATCCACAGAACAACTCTCTTCCCAATTTCTGCCTGTTTCTAAATTGGAAATTTATAGGCCTATGGTCAGTACTCTAGAGAACAGTGCATAATCTTCCAAGATAAAATAAATTATTGGAAAATTGATGCTCTTATTTTAAATATAAATAAGATAGCTGTCAGATGTTAAGACAGCCTAATTTATTTGAATGCAATATTGATCTTGCCTTCTTTTGGAATTTAATAG
Seq C2 exon
GTATGGTATGATCCAGAAGGCTATCACTCCCTTCCAGCTTACCTCAACAGCCTGAATAATTTCCTTCTGCGAGTTAACATGTCAAAATACGATGCTGCCCGACATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144452:ENST00000272895:38
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(6.4=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(7.7=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:
ATGGAGGTTGGAGTTTTGGGC
R:
CATGTCGGGCAGCATCGTATT
Band lengths:
192-1958
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development