HsaEX6097358 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13890976-13900412:-
Coord C1 exon
chr5:13900206-13900412
Coord A exon
chr5:13894650-13894821
Coord C2 exon
chr5:13890976-13891121
Length
172 bp
Sequences
Splice sites
3' ss Seq
TAACCCCAATTTCATTGCAGATG
3' ss Score
8.1
5' ss Seq
TCAGTAAGT
5' ss Score
9.14
Exon sequences
Seq C1 exon
ATTGAAGAAATTCATGTAGGTCTTGAGGCTTCATTATTGGTGAAGGCTCCAGGCACAGGGGAATTGTTTGTAAACTTTGACCCTCAGATATTAATCTTATTTAGAGAAACAGAGTGCATGGCCCAGATGGGTCTGGAAGTCTCTCCACTGGCAACTTCCCTCTTCCAGAAACGAGATAGATACAAAAGGAACTTCAGTAACATGAAG
Seq A exon
ATGATGCTAGCTGAATATCAGAGAGTGAAGTCAAAAATACCTGCTGCCATTGAGCAATTGATTGTCCCTCACTTGGCCAAAGTGGATGAAGCTCTCCAACCTGGCTTGGCTGCACTGACCTGGACATCACTGAATATTGAGGCTTATTTAGAAAACACTTTTGCAAAGATCA
Seq C2 exon
AGGACCTGGAGTTGCTGCTTGACAGGGTCAATGATTTGATTGAGTTCCGCATTGATGCCATTCTAGAAGAAATGAGCAGCACGCCTCTTTGTCAGCTTCCCCAGGAGGAGCCACTAACCTGTGAAGAGTTTCTCCAAATGACAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139-'24-24,'24-23,25-24=AN
Average complexity
A_C1
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=0.020
Domain overlap (PFAM):
C1:
PF083857=DHC_N1=FE(12.2=100)
A:
PF083857=DHC_N1=PD(8.9=86.2)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGGCACAGGGGAATTGTTT
R:
AAAGAGGCGTGCTGCTCATTT
Band lengths:
249-421
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains