Special

HsaEX6020653 @ hg19

Exon Skipping

Gene
Description
dynein, axonemal, heavy chain 2 [Source:HGNC Symbol;Acc:2948]
Coordinates
chr17:7701475-7702560:+
Coord C1 exon
chr17:7701475-7701642
Coord A exon
chr17:7701876-7702036
Coord C2 exon
chr17:7702421-7702560
Length
161 bp
Sequences
Splice sites
3' ss Seq
TCCTTCCCTCCCCCGGCCAGATA
3' ss Score
8.95
5' ss Seq
GAGGTAGGA
5' ss Score
8.24
Exon sequences
Seq C1 exon
TCACACGGATCGTGCGGGTCATTGGACAGCCTCGGGGCAACATGCTCCTGGTGGGTATCGGGGGCAGCGGACGCCAGAGTCTGGCCCGCCTGGCTTCATCCATCTGCGACTACACCACCTTCCAGATCGAGGTCACCAAACATTATCGGAAGCAGGAGTTCCGAGATG
Seq A exon
ATATCAAGCGTCTGTATCGCCAGGCTGGGGTGGAGCTCAAGACCACGTCCTTCATTTTTGTGGACACCCAAATAGCTGATGAGTCCTTCCTAGAGGACATCAACAACATCCTCAGCTCAGGCGAGGTGCCCAATCTCTACAAGCCTGATGAATTTGAAGAG
Seq C2 exon
ATCCAGTCGCATATCATAGACCAGGCCCGGGTGGAGCAGGTGCCTGAGTCATCGGACAGCCTCTTCGCCTACCTCATTGAACGCGTGCAGAACAACCTGCACATCGTGCTCTGCCTCAGCCCCATGGGGGATCCCTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914-'55-55,'55-54,56-55=AN
Average complexity
A_C1
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:
PF127802=AAA_8=FE(20.7=100)
A:
PF127802=AAA_8=FE(19.6=100)
C2:
PF127802=AAA_8=FE(17.0=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:
GATCGTGCGGGTCATTGGAC
R:
GCGTTCAATGAGGTAGGCGAA
Band lengths:
245-406
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains