Special

HsaEX0020184 @ hg19

Exon Skipping

Gene
Description
dynein, axonemal, heavy chain 2 [Source:HGNC Symbol;Acc:2948]
Coordinates
chr17:7697572-7700579:+
Coord C1 exon
chr17:7697572-7697676
Coord A exon
chr17:7699782-7699970
Coord C2 exon
chr17:7700494-7700579
Length
189 bp
Sequences
Splice sites
3' ss Seq
GAGCCAGGGTCTGTTTCTAGAAG
3' ss Score
2.16
5' ss Seq
AAGGTGACT
5' ss Score
6.64
Exon sequences
Seq C1 exon
GAAATGTTCCTGATGGCTGCCATGGGCCCCCCTGGGGGTGGACGGACTGTCATCTCCCCAAGGCTACGGAGTCGCTTCAACATTATCAACATGACCTTCCCCACA
Seq A exon
AAGTCCCAGATCATCCGCATATTCGGCACCATGATCAATCAGAAGCTTCAGGACTTTGAGGAAGAGGTGAAGCCCATTGGGAACGTGGTGACAGAGGCCACCCTGGACATGTACAACACCGTGGTACAGCGCTTCCTGCCCACGCCCACCAAGATGCATTACCTCTTCAACCTTCGAGACATCTCCAAG
Seq C2 exon
GTGTTCCAGGGCATGCTTAGAGCCAACAAGGACTTCCATGATACCAAGTCCAGCATCACACGGCTCTGGATCCATGAATGTTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914_CASSETTE5
Average complexity
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:
PF127752=AAA_7=FE(12.5=100)
A:
PF127752=AAA_7=FE(22.9=100)
C2:
PF127752=AAA_7=PD(9.2=86.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAATGTTCCTGATGGCTGCCA
R:
AACATTCATGGATCCAGAGCCG
Band lengths:
186-375
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