HsaINT0000464 @ hg38
Intron Retention
Gene
ENSG00000144452 | ABCA12
Description
ATP binding cassette subfamily A member 12 [Source:HGNC Symbol;Acc:HGNC:14637]
Coordinates
chr2:214982187-214983865:-
Coord C1 exon
chr2:214983647-214983865
Coord A exon
chr2:214982384-214983646
Coord C2 exon
chr2:214982187-214982383
Length
1263 bp
Sequences
Splice sites
5' ss Seq
AAGGCAAGT
5' ss Score
3.24
3' ss Seq
ATCATACATTATTTTTGAAGGAC
3' ss Score
4.93
Exon sequences
Seq C1 exon
TTCCATGTTAACTGGGCTGTTTGGGGCCTCAGCAGGCACCATTTTTGTATATGGAAAAGATATCAAAACAGACCTACACACGGTACGGAAGAACATGGGAGTCTGTATGCAGCACGACGTCTTGTTCAGTTACCTCACTACTAAGGAGCACCTTCTCCTATATGGTTCCATCAAAGTTCCTCACTGGACTAAAAAGCAGCTCCACGAGGAAGTAAAAAG
Seq A exon
GCAAGTTAAGACAGGAATGAGAACCTAAGTTGCTAACTCCTCTCAAAGACCCATAGCTTGGTTGGTAAAGTTCTGGTAATGATACCAATAGGAAATATTTTCTCACGAAATAATTACTTTTTAGTTTTTCTACTTATTTAATATTGCAAACATTTAAGGTCATTATCCTTACCGGCCAGTTATTACACTGAAATTGTTTAACTCTCTTCATCTGTGGCTCCCATATTGCCCCGAATCCTTTGCTTCTGATCTCCATGGCTACTACCCTGGTCCAAGCCTCCTAAGTGGATTCTTGGATTTCACTCATCTCTTGTGAAATCTGTTCTTCAAAGAGCAACCAGGGTGATCTTTTTCAACTGCAAATCAGACTATGTCACTCCTGGATTTAAATCGTCCAGTGGCTTCCTTCCATGCTCAGTATAATACTCAATAACATCCTTATCAAGACTTAGGAGGTCCTAAGTGATTTGCCTCCATTCTCACTTCTGATTTCATGTCCTTCCACTCACCTCCACATTCACTCTGCTCAAGGCACACTGGCCTAGCTACACACGTGACTGTCCTAGGCCTGCTCCAGCCTCAGGGCTTTTTACTTTCTCTTCTCTCTACTTACAGCACCTACCCCCCCAGATGGCCATTTGTCTTAATCTTGGTCAAATGACCGCTTTCCTGGTCTGTGCCAAAATGTCACCTTTTCTGAGATGACTACCATATATAAAATTGATGCCTATAATAGCATGTCCCAGCCACTCCTTATCTTATATTCACTGCTTTATTTTTTTTAATTGCACTTATCACCACCAAAACTTACTTGAGAATATATTTATTGACTGGATTTCCCTATATCCCTCCCAATACACACACTTACTAGAACATAATCTCCTTATGAATAGAAATTTTATGTGTTCACTGCTTTTCCCAAGTACATAAAACACAGCCTGGCACAAAATAGGTAGGAACTCTCTAGATATTTGTCAAAGGAATGAATTATATATTCCTTTGTGTTTTTTTCTGAGTATTAATTTTGTACTTTGTAAAGTACATTAATTTTGTACTTTGTAAAAAGTTAATTTTTTGAGTATTAATTTTGTATCCAGGTGATAAATAATAGAAAACTATATTATGAATCCTCAAGAGTTTATTGTACCTTACTGAGCACATAATAGTTACCTAGTGAATACATATCAATTAGGGTTATTGTATGTTTCCAGTACTCAAATAGTATATCTGTAAAAAAATAACCATCATACATTATTTTTGAAG
Seq C2 exon
GACTTTAAAAGATACTGGACTATATAGCCATCGTCATAAGAGAGTTGGAACACTGTCAGGAGGCATGAAGAGGAAGTTATCTATATCCATAGCTCTCATTGGTGGATCAAGGGTAGTAATTTTGGATGAACCATCTACTGGAGTTGACCCATGTTCTCGCCGAAGTATATGGGATGTTATATCCAAGAACAAAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144452:ENST00000272895:29
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:
PF0000522=ABC_tran=FE(49.7=100)
A:
NA
C2:
PF0000522=ABC_tran=PD(31.3=68.7)
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:
CCTCAGCAGGCACCATTTTTG
R:
GCGAGAACATGGGTCAACTCC
Band lengths:
353-1616
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