Special

HsaEX6036986 @ hg19

Exon Skipping

Gene
ENSG00000185842 | DNAH14
Description
dynein, axonemal, heavy chain 14 [Source:HGNC Symbol;Acc:2945]
Coordinates
chr1:225577436-225586368:+
Coord C1 exon
chr1:225577436-225577575
Coord A exon
chr1:225579993-225580153
Coord C2 exon
chr1:225586222-225586368
Length
161 bp
Sequences
Splice sites
3' ss Seq
GTGTGTGTTCTTCTCCAAAGCCT
3' ss Score
8.25
5' ss Seq
AAGGTACTG
5' ss Score
8.56
Exon sequences
Seq C1 exon
GTATATGAGATTTGTCACAGTTTGGAAGCAGTCTATTCCATCAACTAGCCAAAAATGCAAACACCCTGAGGATTCAGAGAACAATTTCTTTGAAGGGTTTCCTTCAAGATACTGGCTCCCAGCTTTCTTCTTTCCACAAG
Seq A exon
CCTTTCTTGCTGCTGTGCTTCAAGACTATGGGAGGTCCCGAGGAATCGCTGTGGATGCCCTCACCTTCACCCACCATGTGATTTCCAACACCACTGACAAGGATGAGAAGTTCTCCGTATTTATGCCAAAGAAACTCAACATAGTCAGGAGAGCGTTTAAG
Seq C2 exon
GGCTCAGCTTCCTCTCACACTGGAGTTTACATTTTTGGTTTATTCATCGAGGGGGCAAGATGGAATCGTGAACAGAAAATACTGGAAGACTCGCTGCCTCTGGAGATGTGCTGTGATTTTCCCGACATATACTTTTTGCCAACAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842-'115-122,'115-120,116-122=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=0.042 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0302810=Dynein_heavy=PD(2.2=10.4),PF0302810=Dynein_heavy=PU(16.7=70.8)
A:
PF0302810=Dynein_heavy=FE(26.2=100)
C2:
PF0302810=Dynein_heavy=FE(23.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTCACAGTTTGGAAGCAGTCT
R:
TGTCGGGAAAATCACAGCACA
Band lengths:
255-416
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains