HsaEX6014214 @ hg38
Exon Skipping
Gene
ENSG00000115423 | DNAH6
Description
dynein axonemal heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:2951]
Coordinates
chr2:84516455-84525738:+
Coord C1 exon
chr2:84516455-84516583
Coord A exon
chr2:84517819-84518051
Coord C2 exon
chr2:84525565-84525738
Length
233 bp
Sequences
Splice sites
3' ss Seq
TCCTCACCTATTCTTTTCAGGAG
3' ss Score
8.35
5' ss Seq
TTGGTAAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GCTTCCGTAGAGGCCAGCTGGTTGCTACGCAGCAACAGGAAACATTCCGCGCTACCGAGTACTTTCTACTCCCGACCAGGCATTGCTCTCTCTGGAGACCCTCGGCGGTGGTTGCTGTATTTTGACTTG
Seq A exon
GAGTAAGGATGACTTTTCGGGCCACAGATAGTGAATTTGACCTGACAAATATTGAAGAGTATGCCGAAAATTCTGCACTTTCAAGACTGAATAATATAAAAGCCAAACAAAGAGTGAGTTATGTGACATCCACAGAAAATGAATCTGATACACAAATCCTAACGTTTAGGCACATTACAAAAGCTCAGGAGAAGACAAGAAAACGACAGCAGCCTATAAAACTAGAGCCTTTG
Seq C2 exon
CCAGTGCTAAAAGTCTACCAAGATCATAAGCAGCCAGAATACATACATGAACAGAACCGATTTCAGTTAATGACTGCAGGAATCATTAAACGTCCAGTAAGCATAGCAAAAAAAAGTTTTGCCACATCATCTACTCAGTTTCTTGAGCATCAAGATGCTGTGAAAAAAATGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115423-'0-2,'0-0,2-2=AN
Average complexity
A_C1
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=0.325 C2=0.016
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
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCCGTAGAGGCCAGCTGG
R:
TGCTCAAGAAACTGAGTAGATGATGT
Band lengths:
277-510
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains