HsaEX1011943 @ hg38
Exon Skipping
Gene
ENSG00000118997 | DNAH7
Description
dynein axonemal heavy chain 7 [Source:HGNC Symbol;Acc:HGNC:18661]
Coordinates
chr2:195845002-195853528:-
Coord C1 exon
chr2:195853343-195853528
Coord A exon
chr2:195847555-195847637
Coord C2 exon
chr2:195845002-195845165
Length
83 bp
Sequences
Splice sites
3' ss Seq
GTTTTTTTTTTAACTTTTAGGTT
3' ss Score
11.88
5' ss Seq
CAGGTAATA
5' ss Score
8.55
Exon sequences
Seq C1 exon
GTTGACCTTTGCAGCAAAAAACTAGAACGAGCTGAACAGTTGATTGGAGGCCTTGGAGGTGAGAAAACTCGATGGAGCCACACAGCTCTGGAGCTAGGTCAGCTGTACATCAACTTGACTGGGGATATCCTCATTTCCTCCGGAGTGGTTGCTTACCTCGGAGCCTTCACATCCACCTATAGACAG
Seq A exon
GTTCAGGGGTACATGTGCAGGTTTTTTACATAACCAAATTGTGTGTCAACAGGGTTCGGTGTACAGATTATGTCATCACCCAG
Seq C2 exon
AATCAAACTAAAGAGTGGACAACTTTGTGCAAAGGAAGAGATATCCCCTGCTCAGATGATTGCTCTCTTATGGGTACCCTGGGAGAAGCTGTGACAATTCGAACTTGGAATATTGCTGGATTACCTTCTGACTCATTTTCCATTGATAATGGGATAATCATAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997_MULTIEX5-1/5=C1-2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127772=MT=FE(17.4=100)
A:
PF127772=MT=PD(2.3=72.7)
C2:
PF127772=MT=PD(2.3=14.5),PF127812=AAA_9=PU(12.6=52.7)
Main Inclusion Isoform:
ENST00000312428fB14001
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
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:
GTTGATTGGAGGCCTTGGAGG
R:
CCTTTGCACAAAGTTGTCCACT
Band lengths:
183-266
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains