Special

HsaEX0020158 @ hg38

Exon Skipping

Gene
ENSG00000185842 | DNAH14
Description
dynein axonemal heavy chain 14 [Source:HGNC Symbol;Acc:HGNC:2945]
Coordinates
chr1:225117684-225123614:+
Coord C1 exon
chr1:225117684-225117788
Coord A exon
chr1:225117881-225117999
Coord C2 exon
chr1:225123527-225123614
Length
119 bp
Sequences
Splice sites
3' ss Seq
CATTTGTTTCTGGTTCACAGCCT
3' ss Score
7.1
5' ss Seq
AAAGTATGA
5' ss Score
3.87
Exon sequences
Seq C1 exon
GATTACCTTGAAGTTAAAAGATTAATTTTCCCAAGATTTTACTTTCTTAGCAATGCCGAGCTTCTTGATATTCTAGCTGATAGCAGAAATCCTGAGTCTGTACAG
Seq A exon
CCTCATCTTGTGAAATGCTTTGAAAATATAAAACAATTATTGATATGGAAACAAGACATTGGCCCTCCTGCTGTAAAAATGCTAATATCTGCTGAAGGGGAAGGTCTCGTGCTGCCAAA
Seq C2 exon
ATTTTTAAGTCAAGGGATTGAAGACTGGAACTGCCAGATGTTTTCCCAATGGGTGTTATCTCATCCAGGACAAGTGGTACTTACTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842_MULTIEX2-22/72=21-24
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=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF083938=DHC_N2=PU(42.0=97.1)
A:
PF083938=DHC_N2=FE(9.6=100)
C2:
PF083938=DHC_N2=PD(20.0=33.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Mouse
(mm9)
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:
CCAAGATTTTACTTTCTTAGCAATGC
R:
ACAGTAAGTACCACTTGTCCTGGA
Band lengths:
162-281
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