HsaEX6056752 @ hg19
Exon Skipping
Gene
ENSG00000174844 | DNAH12
Description
dynein, axonemal, heavy chain 12 [Source:HGNC Symbol;Acc:2943]
Coordinates
chr3:57509530-57530071:-
Coord C1 exon
chr3:57529924-57530071
Coord A exon
chr3:57528428-57528630
Coord C2 exon
chr3:57509530-57509611
Length
203 bp
Sequences
Splice sites
3' ss Seq
TATGGACTTTTTCTCCTCAGAGT
3' ss Score
9.12
5' ss Seq
AGTGTAAGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
GCCCTTCTCCAGCTACTCGTTTGAGAGCCGGTGGCGTTCCGGAGGTTTCTCCCTCGTTATCCCCCTGCCTTTCACCTGAGGAGAGGCTCTGACTGTCTCTCTCTCTCTCTGGCGTCTGCGCAGCGGGGAAGTAGTGAGAAACAATCAG
Seq A exon
AGTACAGAGTATTTTAATCTTTAGGGGATCAAGATGTCAGATGCAAACAAAGCTGCCATTGCAGCAGAAAAGGAAGCTCTGAACTTGAAGTTACCCCCCATTGTCCATCTCCCAGAAAACATAGGCGTTGATACACCAACACAAAGTAAGCTGCTAAAATACAGAAGATCCAAGGAGCAGCAGCAGAAAATTAATCAGTTAGT
Seq C2 exon
AATTGATGGAGCCAAAAGAAATTTAGACAGAACACTGGGTAAAAGAACACCTCTATTACCACCACCTGATTATCCTCAAACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'0-1,'0-0,1-1=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.249 C2=0.714
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCTTCTCCAGCTACTCGTT
R:
GTTTGAGGATAATCAGGTGGTGGT
Band lengths:
229-432
Functional annotations
There are 1 annotated functions for this event
PMID: 26538579
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: protein array. ELM ID: ELMI003104; ELM sequence: KEALNLKLP; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)