HsaINT0000463 @ hg38
Intron Retention
Gene
ENSG00000144452 | ABCA12
Description
ATP binding cassette subfamily A member 12 [Source:HGNC Symbol;Acc:HGNC:14637]
Coordinates
chr2:214983647-214986728:-
Coord C1 exon
chr2:214986542-214986728
Coord A exon
chr2:214983866-214986541
Coord C2 exon
chr2:214983647-214983865
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:ENST00000272895:28
Average complexity
IR
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