HsaINT1000065 @ hg38
Intron Retention
Gene
ENSG00000144452 | ABCA12
Description
ATP binding cassette subfamily A member 12 [Source:HGNC Symbol;Acc:HGNC:14637]
Coordinates
chr2:215049626-215052584:-
Coord C1 exon
chr2:215052487-215052584
Coord A exon
chr2:215049812-215052486
Coord C2 exon
chr2:215049626-215049811
Length
2675 bp
Sequences
Splice sites
5' ss Seq
AAGGTAACT
5' ss Score
9.01
3' ss Seq
CTTTTCACACATGCTTTTAGCTG
3' ss Score
6.12
Exon sequences
Seq C1 exon
CCACAGTATTTCCCAGTCCAAGTTCTGATTTGGAAATCCCCGGAACATATACTTTCAATGGCAGTCAAGTGCTCGCACGAATTCTTGGCTTGGAAAAG
Seq A exon
GTAACTTGATTCAATTTTGTAATGGGTAGAGTGATTCAACATAGGCCTTTTAGGTTAATAGAAGGATCTCTCAAATAGCAAGATGTTTGGAGCACCTTTCCTATTTAGGGTAATATCTCAGGCAACTTCTTTTCTTAGGAACCCTTCAATAAACAGCTTAATTTTAAGACATTCTGAATTCCTTAATATCTTGAGTATTTATTTACTTCCCTGTTAAGTCCCTTAATTGAACTTAAAGTTTTCACTTAGTAAGAAATTAGGGTGGCATAATATGTGATGTTTTAATTTTCTGAAGCAGGAAAGAAAAAAAGACCAAATGAAGTTATAATGCTCTTCGAATTTGCTGCCTCATCCATACTAATCAAGTCTTGGGAAAAATTAGAGCTAAGGAAAATATTGCCCCAAAGTAGGAAAATCCTTTTTCTTAGCGTATTTTAGAGAGCTTACTTATCGATTTCTCTGTTTCCTAGAGATCATCTACTTTAAGATTTCCCAGATTGCAAGATAATGAACATAATTTCTATCAGAGGTGTAAACTGGCAGCCTGTGAGCTAAATGTGTGTGTGAGTGTGTGTACGGAGATTTTAAGAAATTGAATGTGAATGCCTTTAGGCAGAACACGTGCTCTTTGTAACTACAATCTCTACTTCCCCTTATTGTCTTTCATCTGGCCAGATTAATATATTTAAGTTATTTGGCTGGTCCCATAGGTATTTAAGTCCTGTTTTATGTGCTCTTTAGACATGAAAAGACTTCATTTTCAACATTTGGCATTAGAGATACTATTCTCTCTCTCTCTCTCCCACTCACCTTTCTTCTCTCCTTCCCCCATCACCTTCACACACACACACACACACACACACACACACACACACACTAGCGTTTTTAATAATATATCTATATCTTATATAGCAACCATTTCTTTTATCTGATCATGAGACATGTCTTTAACATTTATTAACATTCCAGTAACCATAACCACTGCTACTTAATATGACTTTGTTAGTTATACTTAAATTAATACTCTGTTTAACTGAGGCATTTCAATAAACTGAGTTATATAAATGAGCCAAAGGCCAGCACAAAAGCGGACTCCAGGAAATGGCATCACACTCATCAACTCTGCCCATGCTGGCCAAAATAGAGGACCTTTCAATCTGTCCAATCTAGACATTGAAAGTCTAGTTTACATAATATTTGAGGCTTCTAATGTTTTTTGTCTGGCATAGAAGTCTCTCAATATGCCCAGTTAATTCCAGTCTAAAGCTTCCCCCAATCAAGCACAGTGTATAAATTAGAGAACATTATTCTATTCCATTCCAGTTCTTACATATTGGTTCCTAGAAGTAGACAGTCTTGCATTGGATCAGATAAATTCTTTAATATCTAGAAGAGCAATGCTATTCTCCAAAATGCTACTTTGTCATATTGAAACTCCCAAGTTATCTTTCTCATATGGAATAGAATTTCAGAATTTTGTGAGGCAGCACAGAGCTATATATCCAGGGGAGATAAGCCAAAAATGAAATTTCTATGTATGGATACATATTTTTAGAGTAGTTGGAGCAGGGAAGGGATGTAAAAATTAGGATGATATATTGATGCCTATGTCAGCAATCTCTCTGATTCCTCTTTCTTTCTCTTTACTGCTTTCTGCAACACTTGCAAGAATGAGTAGAGAAATCATTTTTGGGTGAGTTTATGTGGAATGTTAGAAGAGAGATACGGATGAATGACTAGAAGGCCTAACACTTATAGTACATCCTAGATAAGTGGATTCTGTCTTGTTCCATTACTTTTAGAATTTGAGTCACTAGAAGGTAGCATGTAGGTTTTGTAATACACACTTAAGGGGAGGATGAAATTGACCTCACCTCATGGAGTAATAAGAATTAATTATTAAGATGGACCCCTTAAGTCTGACAACTAACTATCATCAGCTCTGTAAATATCTAAACAACTTAATAATGGTAAATATGATCAACATTATGGGTAAAATACTGCTATATCTGTGACTGGCCTGAATTATGAAATATATAGGGAGATTATGATGATTCCATTACGAAAATGATTTCCAATGACTACTTTTAGTAGTTATGCCTGCTATTATACATTTTCACATACGTTTTCCTTTTTCTTTCTATATATAAGACTTAGATGGAAGAACTGCTTTGCAAATGAAGCAATCTATATTTGTACACTTCTGTAAATAAACACTGTTCATCCTAGGAATAGACCTCGAAGCTCCTTCTGTTGGAAATCTTCCAAAGATCACAACCAGTTTCCTATGAGTGCCATGAAGAGTTAGGACACCTGAGTTTCTGCTACTCAATGTCCAGAAAAAGTGAATAAGATTTTTATGCGTGAAGATTTTTGTAAGCAAAGACTCTGTGCATTGAGGTTTTCTGGTCAGAGACAAGAAATGAGTTCAGTCAAACAATTCATATATAAATCATTTAAATAATAACAATGACAAGAATTTACCACATTCATGCATTCGCTCTACAAGTTTCATGGGTAAACTCTATCTACTTTATTGTTATTTTAATAGCTGCTATAATGGAGGACCTCAAAATGGCTATTTTGAAGACAGCTTAGATTCCTTGAAGAATAGAATATTTGAACATCTACATTTATTAACACTCTTATTTTACTCTTTTCACACATGCTTTTAG
Seq C2 exon
CTGTTAAAGCAAAATTCAACTTCAGAAGATATACGAAGAGAACTATGTGACAGCTATTCAGGATACATTGTGGATGATGCCTTCTCTTGGACCTTTCTAGGAAGAAATGTTTTTAACAAATTTTGCCTTTCTAACATGACCCTTTTAGAGTCTTCTCTCCAAGAACTAAACAAACAGTTCTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144452:ENST00000272895:5
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:
PF118243=DUF3344=PD(40.6=84.8)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
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