HsaEX0020184 @ hg38
Exon Skipping
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7794254-7797261:+
Coord C1 exon
chr17:7794254-7794358
Coord A exon
chr17:7796464-7796652
Coord C2 exon
chr17:7797176-7797261
Length
189 bp
Sequences
Splice sites
3' ss Seq
GAGCCAGGGTCTGTTTCTAGAAG
3' ss Score
2.16
5' ss Seq
AAGGTGACT
5' ss Score
6.64
Exon sequences
Seq C1 exon
GAAATGTTCCTGATGGCTGCCATGGGCCCCCCTGGGGGTGGACGGACTGTCATCTCCCCAAGGCTACGGAGTCGCTTCAACATTATCAACATGACCTTCCCCACA
Seq A exon
AAGTCCCAGATCATCCGCATATTCGGCACCATGATCAATCAGAAGCTTCAGGACTTTGAGGAAGAGGTGAAGCCCATTGGGAACGTGGTGACAGAGGCCACCCTGGACATGTACAACACCGTGGTACAGCGCTTCCTGCCCACGCCCACCAAGATGCATTACCTCTTCAACCTTCGAGACATCTCCAAG
Seq C2 exon
GTGTTCCAGGGCATGCTTAGAGCCAACAAGGACTTCCATGATACCAAGTCCAGCATCACACGGCTCTGGATCCATGAATGTTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914_CASSETTE6
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127752=AAA_7=FE(12.5=100)
A:
PF127752=AAA_7=FE(22.9=100)
C2:
PF127752=AAA_7=PD(9.2=86.2)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAATGTTCCTGATGGCTGCCA
R:
AACATTCATGGATCCAGAGCCG
Band lengths:
186-375
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