Special

HsaEX6042679 @ hg38

Exon Skipping

Gene
Description
dynein axonemal heavy chain 3 [Source:HGNC Symbol;Acc:HGNC:2949]
Coordinates
chr16:20954813-20965425:-
Coord C1 exon
chr16:20963284-20965425
Coord A exon
chr16:20959179-20959404
Coord C2 exon
chr16:20954813-20955057
Length
226 bp
Sequences
Splice sites
3' ss Seq
TCCTTTCTTCCTGGTCTCAGGCC
3' ss Score
9.08
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
GTAAGATGATAGAAGATTACTGGGGGGTATCCAAAAAGATTCTTGGGGATCTGAAATTCTTGGAGAGTCTTAAGACATATGACAAAGACAACATCCCCCCACTGACCATGAAGCGGATCCGGGAAAGGTTTATCAATCACCCGGAATTCCAGCCAGCTGTCATTAAAAATGTATCGTCGGCCTGCGAGGGTCTGTGCAAGTGGGTGAGGGCCATGGAGGTGTACGATCGCGTGGCCAAGGTGGTGGCTCCCAAACGGGAGCGACTGAGGGAGGCAGAGGGGAAGCTGGCTGCACAGATGCAGAAGCTGAACCAGAAAAGAGCAGAGCTGAAGCTGGTGGTAGATCGGCTCCAGGCCCTGAATGACGACTTTGAAGAGATGAACACCAAGAAAAAGGACTTGGAGGAAAACATTGAAATCTGCTCCCAAAAGCTGGTCAGGGCAGAGAAACTGATCAGTGGTCTTGGGGGAGAGAAGGACAGATGGACCGAAGCTGCCCGACAGCTGGGGATCCGCTATACTAATCTGACTGGTGACGTGTTGCTGTCCTCAGGAACTGTGGCTTACCTGGGCGCTTTTACAGTGGATTATCGGGTCCAGTGCCAAAATCAGTGGTTGGCTGAATGTAAGGACAAGGTCATCCCTGGCTTCAGTGACTTCAGTCTCAGCCACACGTTAGGGGATCCCATAAAAATCCGTGCCTGGCAGATTGCTGGGCTTCCCGTTGACTCCTTCTCCATCGACAATGGCATCATTGTATCCAATTCCAGACGCTGGGCCTTAATGATTGACCCTCACGGGCAGGCCAATAAATGGATTAAGAACATGGAGAAGGCGAATAAACTGGCTGTCATCAAGTTCTCTGATAGCAACTACATGAGGATGCTGGAAAACGCGCTGCAGTTAGGCACCCCTGTCTTGATTGAAAACATTGGAGAAGAGCTGGATGCTTCTATCGAACCTATCTTGCTCAAGGCAACATTCAAACAGCAAGGAGTTGAGTACATGAGGCTGGGTGAAAACATCATTGAATATTCCAGGGATTTTAAGTTATACATCACAACCCGTTTGAGGAATCCACATTACCTCCCAGAAGTTGCCGTGAAGGTCTGTCTCCTCAACTTCATGATCACCCCCTTGGGTCTCCAAGATCAACTCCTTGGCATCGTGGCTGCGAAGGAGAAGCCAGAGCTGGAAGAGAAAAAGAACCAGTTGATTGTGGAAAGTGCCAAGAACAAGAAGCATCTCAAGGAAATTGAAGATAAGATCTTGGAGGTTCTCTCCATGTCCAAGGGTAACATCCTGGAGGATGAAACCGCCATCAAAGTTCTGTCCTCCTCCAAAGTGCTATCTGAAGAGATCTCAGAGAAACAGAAAGTTGCTTCCATGACAGAAACGCAGATTGACGAGACTCGGATGGGCTACAAGCCAGTGGCTGTGCATTCTGCCACCATCTTCTTTTGTATCTCGGACCTGGCCAACATCGAGCCGATGTACCAGTACTCCCTGACTTGGTTCATAAATCTCTACATGCATTCCTTGACCCACAGCACGAAGAGCGAGGAACTGAATCTGCGCATCAAGTACATCATTGACCATTTCACCCTGAGCATCTACAACAACGTGTGCCGTTCTCTGTTTGAGAAGGACAAGCTACTCTTCTCTCTCCTCCTGACCATCGGCATCATGAAACAGAAGAAGGAAATTACGGAGGAGGTGTGGTACTTCCTTCTCACTGGAGGCATCGCACTGGATAACCCCTACCCCAATCCAGCTCCCCAATGGCTGTCTGAGAAGGCATGGGCAGAGATTGTCCGTGCATCTGCCTTACCCAAACTGCATGGCCTGATGGAGCATTTGGAACAGAACCTGGGTGAATGGAAGCTGATCTATGACTCGGCCTGGCCCCATGAGGAGCAACTCCCTGGGTCTTGGAAGTTCTCTCAAGGATTGGAGAAGATGGTGATCCTTCGATGTTTGCGGCCTGACAAAATGGTGCCAGCGGTCCGGGAGTTCATTGCTGAACATATGGGAAAGCTGTATATCGAAGCCCCTACGTTCGATCTCCAGGGATCCTACAATGATTCCAGCTGCTGTGCGCCTTTGATTTTTGTGTTGTCTCCAAGTGCAGACCCAATGGCAG
Seq A exon
GCCTGCTGAAGTTTGCTGATGATCTTGGTATGGGAGGTACCAGAACACAGACCATCTCCCTTGGCCAAGGCCAAGGCCCTATTGCTGCCAAAATGATCAACAATGCCATCAAAGACGGGACCTGGGTGGTCTTACAGAACTGCCACCTGGCCGCAAGCTGGATGCCTACCCTGGAGAAGATTTGTGAGGAGGTGATTGTTCCTGAGAGCACCAATGCCAGATTCAG
Seq C2 exon
ACTCTGGCTAACCAGCTATCCATCAGAGAAGTTTCCAGTCAGCATTCTCCAGAATGGAATCAAAATGACCAATGAGCCCCCCAAAGGGCTCCGGGCCAACCTGTTGCGCTCCTACCTCAATGACCCCATCTCAGATCCTGTGTTCTTCCAAAGCTGTGCAAAGGCGGTGATGTGGCAAAAGATGTTATTTGGCCTTTGTTTCTTCCACGCCGTTGTTCAAGAGAGAAGAAACTTCGGCCCCCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000158486-'83-96,'83-90,87-96=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.004 A=0.026 C2=0.000
Domain overlap (PFAM):

C1:
PF127772=MT=PD(59.0=29.0),PF127812=AAA_9=WD(100=32.3),PF0302810=Dynein_heavy=PU(18.4=18.3)
A:
PF0302810=Dynein_heavy=FE(10.5=100)
C2:
PF0302810=Dynein_heavy=FE(11.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000261383fB13978


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCCAAGGTCGCACCATTG
R:
CTAGGGAGGGTCAGCAGGAC
Band lengths:
200-426
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains