Special

HsaEX0020152 @ hg38

Exon Skipping

Gene
ENSG00000185842 | DNAH14
Description
dynein axonemal heavy chain 14 [Source:HGNC Symbol;Acc:HGNC:2945]
Coordinates
chr1:225272955-225290082:+
Coord C1 exon
chr1:225272955-225273125
Coord A exon
chr1:225275914-225276081
Coord C2 exon
chr1:225289885-225290082
Length
168 bp
Sequences
Splice sites
3' ss Seq
AAATTCTTATCTTACAATAGATT
3' ss Score
4.9
5' ss Seq
GAGGTAAAC
5' ss Score
7.2
Exon sequences
Seq C1 exon
CTTCTCCTAGGATTGCTGCAAGCTGACAGGACTGTTGTTAACTCCAAAGAGATGGCTGCTCTGCTCTTTGTTCATGAAGCCACCCGAGTATTTCACGATCGCTTAATTGATTTCACTGATAAAAGCCTTTTCTATCGGTTGCTTTCAAGGGAACTTGAGAACTGTTTTCAG
Seq A exon
ATTCAGTGGACCCAAGAAAACCTGATGAATCACTCAACTGTATTTTTGGACTTCTTGGATATAAACAAGACTCATAGAAAAAAGATTTATCAGAATACCAGTGACTATAATAAACTTGCCAGTGTACTTGATGAATTCCAAATGAAGTTGGGTTCAATTTCTTTGGAG
Seq C2 exon
ATTGGAATAGATGGATGTGGGAAAAAAACATGTGCAACCTTGGCCTGTTATTTGACAGATAATAAACTATACCGAGTGCCTATATCTCACAAATGTGCCTACATCGAATTCAAAGAAGTCTTTAAAAAGGTGTTTATTCACGCAGGATTAAAAGGGAAACCCACTGTTCTGATGGTTCCCAATTTAAACATAGAACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842_MULTIEX2-53/72=52-55
Average complexity
C2
Mappability confidence:
98%=98=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF127752=AAA_7=PD(10.9=43.9),PF127802=AAA_8=PU(10.0=45.6)
A:
PF127752=AAA_7=PD(8.5=33.3),PF127802=AAA_8=PU(0.4=1.8)
C2:
PF127802=AAA_8=FE(24.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
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:
AAGCCACCCGAGTATTTCACG
R:
GGGTTTCCCTTTTAATCCTGCG
Band lengths:
257-425
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