HsaEX0020210 @ hg38
Exon Skipping
Gene
ENSG00000118997 | DNAH7
Description
dynein axonemal heavy chain 7 [Source:HGNC Symbol;Acc:HGNC:18661]
Coordinates
chr2:195824255-195845165:-
Coord C1 exon
chr2:195845002-195845165
Coord A exon
chr2:195824962-195825109
Coord C2 exon
chr2:195824255-195824445
Length
148 bp
Sequences
Splice sites
3' ss Seq
TTCTTGTGTTTTCTTTGTAGAGA
3' ss Score
9.62
5' ss Seq
TGTGTGAGT
5' ss Score
5.84
Exon sequences
Seq C1 exon
AATCAAACTAAAGAGTGGACAACTTTGTGCAAAGGAAGAGATATCCCCTGCTCAGATGATTGCTCTCTTATGGGTACCCTGGGAGAAGCTGTGACAATTCGAACTTGGAATATTGCTGGATTACCTTCTGACTCATTTTCCATTGATAATGGGATAATCATAAT
Seq A exon
AGACAGGAGCTCGCCATGTTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGCAATCCTCCTGCCTCGTCCTCTCAAAGTGCTGGAATTACAGGCATGAGCCACTGTGCCTGGCCTTTGTGTCATTTTTCTATCAATCTATATACTGT
Seq C2 exon
TGTTGCTAGAAAATGTTGGCGAAGAACTAGATCCTATTTTGGAACCTCTTCTACTAAAACAAACCTTTAAGCAGGGTGGGAGTACATGTATCCGGCTTGGGGACTCCACAATTGAATATGCACCTGACTTCCGCTTCTATATTACTACCAAGTTAAGAAATCCTCATTATCTTCCTGAAACATCAGTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997_MULTIEX5-5/5=2-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF127772=MT=PD(2.3=14.5),PF127812=AAA_9=PU(12.6=52.7)
A:
NA
C2:
PF127812=AAA_9=FE(27.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCTGCTCAGATGATTGCTC
R:
GAAGCGGAAGTCAGGTGCATA
Band lengths:
257-405
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