HsaEX6020665 @ hg38
Exon Skipping
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7786124-7787033:+
Coord C1 exon
chr17:7786124-7786342
Coord A exon
chr17:7786570-7786687
Coord C2 exon
chr17:7786897-7787033
Length
118 bp
Sequences
Splice sites
3' ss Seq
CCTTCCGGTGTCATTTTCAGGAG
3' ss Score
11.07
5' ss Seq
CAGGTATCC
5' ss Score
7.91
Exon sequences
Seq C1 exon
CTGCGGGAGACCGTTGAGCAGGAGATTCGAGACATGGGCCTGCAAAGCACGCCGTTCACCCTCACCAAGGTTTTCCAGTTGTATGAAACCAAGAACTCCCGCCACTCCACCATGATCGTGGGCTGCACGGGCAGCGGCAAGACTGCCTCATGGCGCATTCTACAGGCCTCCCTGTCCTCTCTGTGCCGCGCCGGAGACCCTAACTTCAACATTGTTAGA
Seq A exon
GAGTTCCCTTTGAACCCCAAGGCATTGTCCCTAGGGGAACTGTATGGGGAATATGACCTCAGCACCAATGAATGGACAGATGGCATCTTGTCCAGTGTCATGCGGACGGCATGTGCAG
Seq C2 exon
ATGAGAAACCCGACGAGAAGTGGATCCTGTTCGATGGCCCCGTGGACACACTGTGGATCGAGAACATGAACTCCGTCATGGACGATAACAAGGTGTTGACCCTCATCAACGGCGAGCGCATCGCGATGCCCGAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914-'54-58,'54-57,55-58=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF077289=AAA_5=PU(25.7=50.7)
A:
PF077289=AAA_5=FE(27.1=100)
C2:
PF077289=AAA_5=FE(31.2=100)
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:
GACCGTTGAGCAGGAGATTCG
R:
GCCATCGAACAGGATCCACTT
Band lengths:
249-367
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains