Special

HsaEX6014213 @ hg38

Exon Skipping

Gene
Description
dynein axonemal heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:2951]
Coordinates
chr2:84517819-84548417:+
Coord C1 exon
chr2:84517819-84518051
Coord A exon
chr2:84544233-84544500
Coord C2 exon
chr2:84548288-84548417
Length
268 bp
Sequences
Splice sites
3' ss Seq
CAATTTTTATTTGTTTATAGAGT
3' ss Score
6.24
5' ss Seq
CCTGTATGT
5' ss Score
4.27
Exon sequences
Seq C1 exon
GAGTAAGGATGACTTTTCGGGCCACAGATAGTGAATTTGACCTGACAAATATTGAAGAGTATGCCGAAAATTCTGCACTTTCAAGACTGAATAATATAAAAGCCAAACAAAGAGTGAGTTATGTGACATCCACAGAAAATGAATCTGATACACAAATCCTAACGTTTAGGCACATTACAAAAGCTCAGGAGAAGACAAGAAAACGACAGCAGCCTATAAAACTAGAGCCTTTG
Seq A exon
AGTTGTAAGTTATGAGAACATCAATAAAAATGACTACTATACTATTAGCCAAAGGGCAGTAACACACATTTATAATGAAGACATTGAATTTATCGAAATTGATCGATGGGAACAGGAATATCTGTATCACAGAGAACTCACTAAGATTCCCATATTTTCACTGTTCCGGAAATGGAAGGCTTTTAGTGTATGGAGGAAGAATGTCCGCTCCAAGAAAATCACTGGATGTCAAAAATCTCTACAAAAAAATTTGTTCATTGTTAATCCT
Seq C2 exon
ATTATCATAAAGTGCAGAGCAGTGGAAGTTTCATTAATACACCACATGAGTTGCCCACTTATGGAGACTCTGAGAAAATGACATATACAGAACAGGCCAGCAAAAGGCATTATTGCATGAGGCTGACGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115423_MULTIEX2-4/6=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.325 A=0.000 C2=0.066
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000389394fB13995


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGGATGACTTTTCGGGCCAC
R:
TCAGAGTCTCCATAAGTGGGCA
Band lengths:
302-570
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains