HsaINT0000464 @ hg19
Intron Retention
Gene
ENSG00000144452 | ABCA12
Description
ATP-binding cassette, sub-family A (ABC1), member 12 [Source:HGNC Symbol;Acc:14637]
Coordinates
chr2:215846911-215848589:-
Coord C1 exon
chr2:215848371-215848589
Coord A exon
chr2:215847108-215848370
Coord C2 exon
chr2:215846911-215847107
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-ABCA12:NM_015657:21
Average complexity
IR-S
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)