Special

HsaEX0020106 @ hg19

Exon Skipping

Gene
Description
dynein, axonemal, heavy chain 1 [Source:HGNC Symbol;Acc:2940]
Coordinates
chr3:52384524-52389071:+
Coord C1 exon
chr3:52384524-52384606
Coord A exon
chr3:52387396-52387649
Coord C2 exon
chr3:52388859-52389071
Length
254 bp
Sequences
Splice sites
3' ss Seq
GTTTCTGTCTTACCCGGCAGCCT
3' ss Score
7.98
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GAGCGGATTGTGAAGGTCATGGATGACTACCAGGTCATGGATGAATTCCTCTACAACCTCAGCTCAGATGACTTCAATGACAA
Seq A exon
CCTGCCAGGAAGTGGCCTTGGACATCCGGGCCCGCATCGAGGAGTTCAAACCATACATCCCACTGATCCAGGGGCTGCGCAACCCTGGCATGCGGATCCGGCACTGGGAGACACTGTCCAACCAGATCAACATCAATGTCAGGCCCAAGGCCAACCTGACCTTTGCTCGCTGCCTGGAGATGAACCTGCAGGACCATATCGAGAGCATCAGCAAGGTGGCTGAGGTGGCTGGCAAGGAGTACGCCATCGAGCAG
Seq C2 exon
GCACTGGACAAGATGGAGAAGGAGTGGTCGACCATCCTGTTCAATGTACTGCCCTACAAGGCGACAGACACCTACATCCTGAAGAGCCCGGACGAGGCCTCACAGCTGCTGGACGACCACATCGTCATGACCCAGAATATGTCATTTTCACCCTACAAGAAGCCCTTTGAGCAGCGCATCAACTCCTGGGAGAACAAACTGAAGCTGACCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841_MULTIEX4-4/4=C1-C2
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=0.016 C2=0.000
Domain overlap (PFAM):

C1:
PF0240317=Seryl_tRNA_N=PD(19.0=67.9)
A:
PF083938=DHC_N2=FE(20.4=100)
C2:
PF083938=DHC_N2=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)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCGGATTGTGAAGGTCATGG
R:
TGGGTCAGCTTCAGTTTGTTCT
Band lengths:
294-548
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development