Special

HsaEX0020204 @ hg19

Exon Skipping

Gene
Description
dynein, axonemal, heavy chain 7 [Source:HGNC Symbol;Acc:18661]
Coordinates
chr2:196698930-196718252:-
Coord C1 exon
chr2:196718067-196718252
Coord A exon
chr2:196709726-196709889
Coord C2 exon
chr2:196698930-196699084
Length
164 bp
Sequences
Splice sites
3' ss Seq
TTTCTGTGGATGTTCTAAAGAAT
3' ss Score
3.49
5' ss Seq
AATGTAAGA
5' ss Score
5.55
Exon sequences
Seq C1 exon
GTTGACCTTTGCAGCAAAAAACTAGAACGAGCTGAACAGTTGATTGGAGGCCTTGGAGGTGAGAAAACTCGATGGAGCCACACAGCTCTGGAGCTAGGTCAGCTGTACATCAACTTGACTGGGGATATCCTCATTTCCTCCGGAGTGGTTGCTTACCTCGGAGCCTTCACATCCACCTATAGACAG
Seq A exon
AATCAAACTAAAGAGTGGACAACTTTGTGCAAAGGAAGAGATATCCCCTGCTCAGATGATTGCTCTCTTATGGGTACCCTGGGAGAAGCTGTGACAATTCGAACTTGGAATATTGCTGGATTACCTTCTGACTCATTTTCCATTGATAATGGGATAATCATAAT
Seq C2 exon
GAATGCAAGAAGGTGGCCTCTGATGATAGATCCTCAAAGTCAGGCTAATAAATGGATCAAGAACATGGAAAAAGCCAATAGTCTTTATGTGATTAAACTTAGTGAACCTGACTATGTCAGGACTCTGGAAAATTGCATCCAGTTTGGTACTCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997-'51-53,'51-51,52-53
Average complexity
C2
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=0.000
Domain overlap (PFAM):

C1:
PF127772=MT=FE(17.4=100)
A:
PF127772=MT=PD(2.3=14.5),PF127812=AAA_9=PU(12.6=52.7)
C2:
PF127812=AAA_9=FE(22.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


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:
AAACTCGATGGAGCCACACAG
R:
GCAATTTTCCAGAGTCCTGACA
Band lengths:
258-422
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