HsaEX0020132 @ hg38
Exon Skipping
Gene
ENSG00000185842 | DNAH14
Description
dynein axonemal heavy chain 14 [Source:HGNC Symbol;Acc:HGNC:2945]
Coordinates
chr1:225270735-225273125:+
Coord C1 exon
chr1:225270735-225270866
Coord A exon
chr1:225271906-225272073
Coord C2 exon
chr1:225272955-225273125
Length
168 bp
Sequences
Splice sites
3' ss Seq
TATAACATTTCTTTTTAAAGGCT
3' ss Score
7.63
5' ss Seq
AAGGTTTGT
5' ss Score
7.81
Exon sequences
Seq C1 exon
AATATTCAAGATCTGTCTATAGTTGCAGCTTGTGTTCCAGTTGTGAATGATATCAGCCCACGTCTTCTCAAACACTTTTCCATGCTGGTATTACCTCATCCTTCACAAGACATCTTATGTACTATTTTCCAG
Seq A exon
GCTCATTTGGGAATTTATTTCTCCATCAATAACTTCACACCTGAAGTTCAGAAAAGTAAGGATCAGATAATATCTTGTTCCCTAGCTATATACCATCAAGTACGTCAGAATATGTTACCAACTCCAACAAAATGTCACTACATGTTTAATCTTCGAGATATGTTTAAG
Seq C2 exon
CTTCTCCTAGGATTGCTGCAAGCTGACAGGACTGTTGTTAACTCCAAAGAGATGGCTGCTCTGCTCTTTGTTCATGAAGCCACCCGAGTATTTCACGATCGCTTAATTGATTTCACTGATAAAAGCCTTTTCTATCGGTTGCTTTCAAGGGAACTTGAGAACTGTTTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842_MULTIEX2-51/72=50-52
Average complexity
C1
Mappability confidence:
98%=96=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127752=AAA_7=PD(15.3=86.4)
A:
PF127752=AAA_7=FE(23.9=100)
C2:
PF127752=AAA_7=PD(10.9=43.9),PF127802=AAA_8=PU(10.0=45.6)
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
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:
TGTGAATGATATCAGCCCACGT
R:
AGTTCCCTTGAAAGCAACCGA
Band lengths:
246-414
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development