HsaEX6097391 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13788716-13793728:-
Coord C1 exon
chr5:13793515-13793728
Coord A exon
chr5:13791994-13792217
Coord C2 exon
chr5:13788716-13788914
Length
224 bp
Sequences
Splice sites
3' ss Seq
TGTAATTTCCCCCTTTTCAGGTG
3' ss Score
11.72
5' ss Seq
AATGTAAGT
5' ss Score
8.62
Exon sequences
Seq C1 exon
GTTACGAATGAGATAGTGCGACAGCTGATGGAACAAAATGGATTCTATAATCTAGAGAAGCCTGGGGAGTTCACCAGCATCGTGGACATCCAGTTTTTGGCAGCCATGATCCATCCTGGTGGTGGACGCAATGACATACCCCAAAGACTCAAGAGGCAGTTCTCTATATTTAATTGCACGTTGCCCTCTGAAGCTTCTGTGGACAAGATCTTTG
Seq A exon
GTGTGATTGGGGTAGGCCACTACTGTACTCAGAGGGGTTTCTCAGAAGAAGTGAGAGATTCTGTGACAAAATTGGTGCCTCTGACACGCCGACTATGGCAGATGACCAAGATTAAAATGCTTCCTACCCCTGCAAAATTCCATTATGTGTTTAACCTACGAGATCTTTCTCGGGTCTGGCAGGGAATGCTGAACACTACTTCAGAGGTCATCAAGGAACCAAAT
Seq C2 exon
GATCTGTTAAAGCTGTGGAAGCATGAGTGTAAACGTGTTATAGCTGACCGTTTCACAGTGTCCAGTGATGTGACCTGGTTTGATAAGGCTTTAGTAAGTTTGGTAGAGGAGGAGTTTGGTGAAGAGAAAAAACTCTTGGTGGATTGTGGAATTGACACATATTTTGTGGATTTCTTGAGAGATGCACCTGAAGCTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139-'71-70,'71-69,72-70=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=0.015
Domain overlap (PFAM):
C1:
PF127752=AAA_7=FE(26.1=100)
A:
PF127752=AAA_7=FE(27.2=100)
C2:
PF127752=AAA_7=PD(2.9=11.9)
Main Skipping Isoform:
NA
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:
GGTGGTGGACGCAATGACATA
R:
CAGCTTCAGGTGCATCTCTCA
Band lengths:
293-517
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains