Special

HsaEX0020163 @ hg38

Exon Skipping

Gene
ENSG00000185842 | DNAH14
Description
dynein axonemal heavy chain 14 [Source:HGNC Symbol;Acc:HGNC:2945]
Coordinates
chr1:225152697-225159485:+
Coord C1 exon
chr1:225152697-225152883
Coord A exon
chr1:225153750-225153826
Coord C2 exon
chr1:225159314-225159485
Length
77 bp
Sequences
Splice sites
3' ss Seq
AATATTTTAATGTTTGATAGGAT
3' ss Score
6.44
5' ss Seq
ATGGTCAGT
5' ss Score
6.57
Exon sequences
Seq C1 exon
ATACGGAGGTGGAGTAGAGCTCCCAGATAACTTAAAATCTCTGTTTCGCCCAGTGGCAATGATGGTGCCCCATTATCAAATGATTGCTGAAATAATATTGTTTTCATTTGGTTTCAAATCTGCAAATTCACTCTCTGGAAAGCTAACTAACCTTTATGAATTAGCGCGCAAACAGCTCTCACAACAG
Seq A exon
GATCATTATAATTTTGGCTTGAGATCTCTGAAGATAGTTTTAATAATGGCTGGAACGAAGAAACGGGAGTTTAAATG
Seq C2 exon
TGATACCAGTGACAGTCTTTCTGAAGCAGATGAAACCTTGATTGTTATCGAGGCTATAAGAGAAGCTAGTTTGCCAAAATGTCCTCCTGAAGATGTCCCACTTTTTGAAAATATTATAGGAGATATTTTTCCAGAAGTGACAGTTTTGAAAGTAAATCAACTTGCCTTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842-'71-91,'71-90,72-91
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=0.007
Domain overlap (PFAM):

C1:
PF127742=AAA_6=FE(27.0=100)
A:
PF127742=AAA_6=PD(10.0=88.5)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AATCTCTGTTTCGCCCAGTGG
R:
GCTTCAGAAAGACTGTCACTGGT
Band lengths:
179-256
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