Special

HsaEX6017580 @ hg38

Exon Skipping

Gene
Description
dynein axonemal heavy chain 7 [Source:HGNC Symbol;Acc:HGNC:18661]
Coordinates
chr2:195872250-195875843:-
Coord C1 exon
chr2:195875675-195875843
Coord A exon
chr2:195873568-195873694
Coord C2 exon
chr2:195872250-195872469
Length
127 bp
Sequences
Splice sites
3' ss Seq
TTATACTTTTTAATATTTAGGTG
3' ss Score
9.4
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
Exon sequences
Seq C1 exon
GTTGTCTTTGTAGATGATGTCAATATGCCTGCTCGGGAGGTATATGGGGCTCAACCTCCCATTGAGTTACTTAGACAGTGGTTAGACCACTGGAACTGGTATGATCTAAAAGATTGTTCCATGATTAAACTAGTGGACATTCAGATCATGTGTGCTATGGGACCTCCAG
Seq A exon
GTGGTGGTCGAAATCCAGTAACTCCTCGATACATGCGACATTTCAATATTATAACAATCAATGAGTTTAGTGATAAATCCATGTATACAATCTTCTCTAGAATCTTAACTTGGCATTTAGAAATCTG
Seq C2 exon
TTATAAATTTCCAGATGAATTTCTAGATTTGACCACACAAATCGTAAATGGCACAATGACTCTGTATAAAGAAGCAATGAAGAATCTCTTGCCTACTCCAGCTAAATCTCACTACTTGTTCAACCTCCGTGATTTCTCCCGTGTCATTCAAGGTGTTTGTTTGTCAAGACCAGAAACAACAGAAACCACAGAAGTGATTAAACGTCTTTGGGTTCATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997-'59-64,'59-61,62-64=AN
Average complexity
A_C3
Mappability confidence:
75%=100=83%
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:
PF127752=AAA_7=FE(20.4=100)
A:
PF127752=AAA_7=FE(15.3=100)
C2:
PF127752=AAA_7=FE(26.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGACTCCATGTTAAGGAGGAATGT
R:
AGTGAGCCGAGATCCCGC
Band lengths:
202-329
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains