HsaEX6056752 @ hg38
Exon Skipping
Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57523803-57544344:-
Coord C1 exon
chr3:57544197-57544344
Coord A exon
chr3:57542701-57542903
Coord C2 exon
chr3:57523803-57523884
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-'0-2,'0-0,1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.281 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
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
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
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