Special

HsaEX6017571 @ hg19

Exon Skipping

Gene
Description
dynein, axonemal, heavy chain 7 [Source:HGNC Symbol;Acc:18661]
Coordinates
chr2:196759700-196765218:-
Coord C1 exon
chr2:196765006-196765218
Coord A exon
chr2:196762391-196762489
Coord C2 exon
chr2:196759700-196759948
Length
99 bp
Sequences
Splice sites
3' ss Seq
GTTTTTTTTTTTTTTTTTAGCTG
3' ss Score
10.4
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
GCTCTCTTTCGGACAGTAGCAATGATGGTACCTGACTATGCCATGATTGCTGAAATAGTCCTATACTCCTGTGGGTTTGTCACTGCTCGACCACTGTCTGTAAAAATTGTGGCTACGTATCGCTTGTGTTCAGAGCAGCTGTCATCTCAACATCACTACGACTATGGAATGAGAGCCGTGAAGTCAGTTCTTACTGCTGCTGGGAATCTGAAG
Seq A exon
CTGAAATATCCAAATGAAAATGAAGAAATTTTGCTGCTTAGATCTATCATTGATGTAAATCTGCCAAAATTTTTATCCCATGATTTACCACTCTTTGAG
Seq C2 exon
GGAATTACTTCGGATTTGTTTCCTGGGGTAAAATTACCAAAACCAGATTACAATGATTTGCTGGCAGCTATCAAAGACAATTGTGCCTCCATGAATTTGCAAATGACTGCATTCTTTTCCGAGAAGATTCTTCAAGTATATGAAATGATGATTGTGCGTCATGGTTTTATGATTGTTGGAGAACCATTTGGAGGAAAAACTAGTGCATATCGTGTCTTAGCTGGAGCACTAAATGATATATGTGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997-'32-34,'32-33,33-34=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF127742=AAA_6=FE(30.3=100)
A:
PF127742=AAA_6=PD(1.3=9.1)
C2:
PF077289=AAA_5=PU(19.4=33.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTTGTCACTGCTCGACCACT
R:
ACCCCAGGAAACAAATCCGAA
Band lengths:
168-267
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains