Special

HsaEX6020665 @ hg19

Exon Skipping

Gene
Description
dynein, axonemal, heavy chain 2 [Source:HGNC Symbol;Acc:2948]
Coordinates
chr17:7689442-7690351:+
Coord C1 exon
chr17:7689442-7689660
Coord A exon
chr17:7689888-7690005
Coord C2 exon
chr17:7690215-7690351
Length
118 bp
Sequences
Splice sites
3' ss Seq
CCTTCCGGTGTCATTTTCAGGAG
3' ss Score
11.07
5' ss Seq
CAGGTATCC
5' ss Score
7.91
Exon sequences
Seq C1 exon
CTGCGGGAGACCGTTGAGCAGGAGATTCGAGACATGGGCCTGCAAAGCACGCCGTTCACCCTCACCAAGGTTTTCCAGTTGTATGAAACCAAGAACTCCCGCCACTCCACCATGATCGTGGGCTGCACGGGCAGCGGCAAGACTGCCTCATGGCGCATTCTACAGGCCTCCCTGTCCTCTCTGTGCCGCGCCGGAGACCCTAACTTCAACATTGTTAGA
Seq A exon
GAGTTCCCTTTGAACCCCAAGGCATTGTCCCTAGGGGAACTGTATGGGGAATATGACCTCAGCACCAATGAATGGACAGATGGCATCTTGTCCAGTGTCATGCGGACGGCATGTGCAG
Seq C2 exon
ATGAGAAACCCGACGAGAAGTGGATCCTGTTCGATGGCCCCGTGGACACACTGTGGATCGAGAACATGAACTCCGTCATGGACGATAACAAGGTGTTGACCCTCATCAACGGCGAGCGCATCGCGATGCCCGAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914-'41-41,'41-40,42-41=AN
Average complexity
A_S
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:
PF077289=AAA_5=PU(25.7=50.7)
A:
PF077289=AAA_5=FE(27.1=100)
C2:
PF077289=AAA_5=FE(31.2=100)


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:
GACCGTTGAGCAGGAGATTCG
R:
GCCATCGAACAGGATCCACTT
Band lengths:
249-367
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains