HsaINT0000461 @ hg38
Intron Retention
Gene
ENSG00000144452 | ABCA12
Description
ATP binding cassette subfamily A member 12 [Source:HGNC Symbol;Acc:HGNC:14637]
Coordinates
chr2:214986542-214987793:-
Coord C1 exon
chr2:214987647-214987793
Coord A exon
chr2:214986729-214987646
Coord C2 exon
chr2:214986542-214986728
Length
918 bp
Sequences
Splice sites
5' ss Seq
CCAGTAAGA
5' ss Score
5.9
3' ss Seq
TTCCCTTGATTTCTCTCCAGGTC
3' ss Score
10.64
Exon sequences
Seq C1 exon
GGACATACGGTATGGCAGCTCCCTGGTATTTTCCAATTCTTCCTTCCTATTGGAAGGAGCGATTTGGGTGTGCAGAGGTGAAGCCTGAGAAGAGCAATGGCCTCATGTTTACTAACATCATGATGCAGAACACCAACCCATCTGCCA
Seq A exon
GTAAGACAAGTCGGTCAACAGCGTGCTTTGTTATGAGAGAAATGATATGAAATTACATGACTAGTAGTTTCAATTATTTTTTTCTAAATGGCAAAATTATCATCCTTTTAGTCATGGATGAAAATGTCTACACATGCGTCTTTGGACTCTTATGGGGATTAAATTGTGGCTTTTTCTGGGCTCATTAGCTCAGTTGGTTAGCATATGGTGCTAATTAGGCCAAGATTGCAGATCCCTTTGTGGTCCAGTTAGACTCACACAGAGAAAAATTTTGTTCCTTGGCCACAATCTACACCCCTAACTCCAGCCATCTGTCACCAGTCATAAGGGGTAACCAAGTAACAAGTTTGAGTAATTTAGCATAACCCATCACAAATACTGGAAAAGTAGTTCAAAGCTTGTGTCTTCCTGATACTAGGTGAGTCGTGTCATTATAAAGTGAGTACGGGCCACTAAGCGGTCCTTTTGTGATGCCTGAAGGAGGTGTAGATAGTTATTAATGAACTGGATTCTATAAACCACAATCTCAACTAGTCTTATCACTCTAAAATCACAACTTTGGAGGCATTTATTTTATAATTTGGTATCATCCTGCCCAACCAGAGGACCAAGCCTTAGACATATCTTTTGACTATTTGATATCTGTTGAATAAAGGAGAATTTATAATTATAATACCATATTCTGGGACTGCTTTTTCCAACAAAGAAGGGTGAAATGAACCCTGGTTCTCCACTCTTATTCATTCTGCAACCAAGTGAGGAGGCTGAAGACTATAATAAATCATTTGTTTCTGGATTTTTTATTTTACTTAGAGGGTTATATTTTTATAGTCTTAAATTTTTAATAAAGATAAAGTCTAACTCTAGCTGCATTACCTTACTTGTGAGTTTACAACTCTTCCCTTGATTTCTCTCCAG
Seq C2 exon
GTCCTGAATACATGTTTTCCTCTAACATCGAGCCTGAACCTAAAGATCTCACAGTCGGGGTTGCCCTGCATGGGGTCACAAAGATCTATGGCTCAAAAGTTGCTGTTGATAACCTCAATCTGAACTTTTATGAAGGGCATATTACTTCATTGCTGGGGCCCAATGGAGCTGGGAAAACTACTACCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144452:ENST00000272895:27
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=0.048
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0000522=ABC_tran=PU(18.4=42.9)
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:
GGACATACGGTATGGCAGCTC
R:
ATGGTAGTAGTTTTCCCAGCTCC
Band lengths:
334-1252
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