Special

HsaEX0020123 @ hg38

Exon Skipping

Gene
ENSG00000185842 | DNAH14
Description
dynein axonemal heavy chain 14 [Source:HGNC Symbol;Acc:HGNC:2945]
Coordinates
chr1:225085544-225097239:+
Coord C1 exon
chr1:225085544-225085789
Coord A exon
chr1:225088026-225088129
Coord C2 exon
chr1:225097118-225097239
Length
104 bp
Sequences
Splice sites
3' ss Seq
GCTCCTGTCTTCCCTAACAGATC
3' ss Score
11.53
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
ATGTTTCAGTATGAAAATGAAATAAATGATATGTCAACCTCAGCAACTAATGAAGCTGCTCTTGAAAAAATGCTATTTAAGATTATTGATTTTTGGAACACTACTCCTTTGCCTTTAATTCTTCACCACACAGAGATTTACTCTATCTTCATAATTCCATCTATAGATGACATATCAGCTCAGTTAGAAGAGTCTCAAGTCATACTTGCAACAATTAAAGGATCTCCCCACATTGGGCCCATTAAG
Seq A exon
ATCTTAAAAGCAAGACCTAAAATGATGAAACTGTAAGTGATTTAACTGCACCCAGAACAAAGCTCAAGACTATAGGAATATAATAATATCCAGTACACAATAAG
Seq C2 exon
GATCTTGTGAATGAATGGGATCAAAACTTGACTCTCTTCTCTTACACCCTTGAGGAATGGATGAATTGTCAAAGAAATTGGCTTTATCTTGAACCAGTCTTTCATTCTTCAGAAATACGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842_MULTIEX2-18/72=17-19
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF083938=DHC_N2=FE(19.9=100)
A:
PF083938=DHC_N2=PD(1.4=25.0)
C2:
PF083938=DHC_N2=FE(9.8=100)


Main Inclusion Isoform:
ENST00000430092fB2118


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
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:
CCTCAGCAACTAATGAAGCTGC
R:
GGGTGTAAGAGAAGAGAGTCAAGT
Band lengths:
258-362
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