HsaINT0003186 @ hg19
Intron Retention
Gene
ENSG00000077522 | ACTN2
Description
actinin, alpha 2 [Source:HGNC Symbol;Acc:164]
Coordinates
chr1:236923024-236924473:+
Coord C1 exon
chr1:236923024-236923089
Coord A exon
chr1:236923090-236924314
Coord C2 exon
chr1:236924315-236924473
Length
1225 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGA
5' ss Score
9.45
3' ss Seq
TCTTTGCCACTTTGCCCCAGGGT
3' ss Score
7.61
Exon sequences
Seq C1 exon
AGGAAGAATGGCCTGATGGATCATGAGGATTTCAGAGCCTGCCTGATTTCCATGGGTTATGACCTG
Seq A exon
GTAAGACAGAAGTTGAAATTGTACTAAGATTTGATATTTTATTGAATTTGGATTTCTGTTATAAAAGATGACAAGCTCAAACCAAGGTAGTGCATTTGGGATTGGTTCGTTTTCATTATATAGGATAATATTTTTTGAAGGTCTCACTGTTATTATATAAAAATAAAGTCACGAGGCCTGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGATGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTAACCAATATGGTGAAACCTCTTCTCTACTAAAAATCCAAAAATTAGCCAGCTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGTTGAGGCAGGAGAATGGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTAGATGACAAGAGTGAAACTCCATCAAAAAAAAAAAAAGTCACAGAACCAAAGCATTTATTTTTATTCAATAATTGGTCAGATTATTTTTTCTAGTGAAGGAGATGAGAACATAGGCTTTTTGATTGTTTTAAACAGCTTTACTGAGATATAACTCACGTACTACGGTTTACCCATTTAAAGTGTATACTTCAGTGGCTTTTAGTAGGAACCTAATGATTTTTCAAGTGCTTTTTCCTCTAATATGCTGAAAGGTAAAAAAGGTTTAGTCGTAAATCAGCCAAGATAAACTTACATTTCCCTGTGGGCTGGGATAGTCCTAGTATATCAGACACTTCTCTGTTACCCATTAATGAGTATTTTTAACCTGGCCTCCCTTGATTCTCTTTGGGACTGTAAACTACAGTCGTGACAGCCATGTTCTGAGCTGCCTTCAGTTTGGCAGCATCGCTTTCCTAGTTGTAATCTGAGGAAAGGGCTCAGCTCCCGCTTTGACCTCCTCTTCCATAATTACGTCACGTGACCCATCAAGGCCAGCAGTGGGTCCCAGAGAGGAAAGACTTCTGACATTTACAAGCTTCTGGTTTGAAGCTCCAGCAACTTTTAAAATTGTTTGGTAGCAGTAAACCTTAGTCACCCTTAAGGGGAATCTTGTCCAAAGACTGAAGGGAAACGCAGGTAATAATTCAGTTTTCAGACATAAAGGAATTGGCATGTCACCAGGGAAAGAATGAAAACGGCTCTGTTGAGAGTTGTGTACCGTTCGTGTACATGTTTCTTTGCCACTTTGCCCCAG
Seq C2 exon
GGTGAAGCCGAATTTGCCCGCATTATGACCCTGGTAGATCCCAACGGGCAAGGCACCGTCACCTTCCAATCCTTCATCGACTTCATGACTAGAGAGACGGCTGACACCGACACTGCCGAGCAGGTCATCGCCTCCTTCCGGATCCTGGCTTCTGATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077522-ACTN2:NM_001103:19
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:
PF138331=EF-hand_8=PU(37.7=90.9)
A:
NA
C2:
PF138331=EF-hand_8=PD(47.7=58.5),PF087265=EFhand_Ca_insen=PU(26.9=34.0)
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:
AGGAAGAATGGCCTGATGGATC
R:
ATCAGAAGCCAGGATCCGGAA
Band lengths:
222-1447
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)