HsaEX0020092 @ hg38
Exon Skipping
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52397707-52399201:+
Coord C1 exon
chr3:52397707-52397877
Coord A exon
chr3:52398032-52398162
Coord C2 exon
chr3:52398850-52399201
Length
131 bp
Sequences
Splice sites
3' ss Seq
GTATTCCTTTGCCCCTGCAGATA
3' ss Score
11.3
5' ss Seq
TAGGTAATC
5' ss Score
5.91
Exon sequences
Seq C1 exon
GGCTACCTCTCCTACATCAAGAGCCTCCCACTCAATGATATGCCTGAGATCTTTGGCCTGCATGACAATGCCAACATCACCTTTGCCCAGAACGAGACGTTCGCCCTCCTGGGCACCATCATCCAGCTGCAACCCAAATCATCTTCTGCAGGCAGCCAGGGCCGGGAGGAG
Seq A exon
ATAGTGGAGGACGTCACCCAAAACATTCTGCTCAAGGTGCCTGAGCCTATCAACTTGCAATGGGTGATGGCCAAGTACCCAGTGCTGTATGAGGAATCAATGAACACAGTACTAGTACAAGAGGTCATTAG
Seq C2 exon
GTACAATCGGCTGCTGCAGGTGATCACACAGACACTGCAAGACCTACTCAAGGCACTCAAGGGGCTGGTAGTGATGTCCTCTCAGCTGGAGCTGATGGCTGCCAGCCTGTACAACAATACTGTGCCTGAGCTCTGGAGTGCCAAGGCCTACCCATCGCTCAAGCCTCTGTCATCATGGGTCATGGACCTGCTGCAACGCCTGGACTTTCTGCAGGCCTGGATCCAAGATGGCATCCCAGCTGTCTTCTGGATCAGTGGATTCTTCTTCCCCCAGGCTTTCTTAACAGGCACTCTGCAGAATTTTGCCCGCAAATTTGTCATCTCCATTGACACCATCTCCTTTGATTTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841_MULTIEX5-17/19=16-18
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.101 A=0.000 C2=0.073
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(12.4=100)
A:
PF0302810=Dynein_heavy=FE(6.1=100)
C2:
PF0302810=Dynein_heavy=FE(16.5=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AATCATCTTCTGCAGGCAGCC
R:
GATCCAGGCCTGCAGAAAGTC
Band lengths:
258-389
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development