Special

HsaEX6014189 @ hg38

Exon Skipping

Gene
Description
dynein axonemal heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:2951]
Coordinates
chr2:84624902-84637377:+
Coord C1 exon
chr2:84624902-84625063
Coord A exon
chr2:84634504-84634641
Coord C2 exon
chr2:84637210-84637377
Length
138 bp
Sequences
Splice sites
3' ss Seq
CTGCTTTATTTTGATTTCAGATG
3' ss Score
8.41
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
GATCGCTGCTATCTTTGCCTCATGGGAGCTTTGCAGCTTGACCTTGGGGGTGCACCAGCTGGTCCTGCTGGCACTGGGAAAACAGAGACTACCAAAGATCTGGCAAAAGCTCTTGCCATCCAGTGTGTGGTCTTTAACTGTTCAGATGGTTTGGACTACAAG
Seq A exon
ATGATGGGGCGCTTCTTCAGTGGCTTGGCACAGTCAGGGGCCTGGTGCTGCTTTGATGAATTTAATCGAATTGACATAGAAGTTCTGTCCGTCATCGCGCAGCAACTCATTACCATTAGGAACGCCAAAGCGGCAAAG
Seq C2 exon
CTCTCTAGATTCATGTTTGAGGGGCGGGAAATAAAGTTGGTGATGACTTGTGCAGCCTTCATCACAATGAATCCTGGCTATGCAGGGAGAACTGAATTGCCAGATAATTTGAAAGCCCTGTTTAGACCATTTGCGATGATGGTTCCAAATTATGCCTTGATTGCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115423-'40-45,'40-43,41-45=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.040 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF127742=AAA_6=FE(22.9=100)
A:
PF127742=AAA_6=FE(19.5=100)
C2:
PF127742=AAA_6=FE(23.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTGCCTCATGGGAGCTTTGC
R:
TCAGTTCTCCCTGCATAGCCA
Band lengths:
244-382
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains