Special

HsaEX6064188 @ hg38

Exon Skipping

Gene
ENSG00000054179 | ENTPD2
Description
ectonucleoside triphosphate diphosphohydrolase 2 [Source:HGNC Symbol;Acc:HGNC:3364]
Coordinates
chr9:137050284-137051370:-
Coord C1 exon
chr9:137051211-137051370
Coord A exon
chr9:137050902-137051129
Coord C2 exon
chr9:137050284-137050538
Length
228 bp
Sequences
Splice sites
3' ss Seq
CCACACTCCCCTCTCCACAGTAC
3' ss Score
7.62
5' ss Seq
CAGGTGCCC
5' ss Score
5.77
Exon sequences
Seq C1 exon
CCTGACCAATCCAGAGGCCTCGACCAGTGTGCTCATGGCAGTGACTCACACACTGACCCAGTACCCCTTTGACTTCCGGGGTGCACGCATCCTCTCGGGCCAGGAAGAGGGGGTGTTTGGCTGGGTGACTGCCAACTACCTGCTGGAGAACTTCATCAAG
Seq A exon
TACGGCTGGGTGGGCCGGTGGTTCCGGCCACGGAAGGGGACACTGGGGGCCATGGACCTGGGGGGTGCCTCTACCCAGATCACTTTTGAGACAACCAGTCCAGCTGAGGACAGAGCCAGCGAGGTCCAGCTGCATCTCTACGGCCAGCACTACCGAGTCTACACCCACAGCTTCCTCTGCTATGGCCGTGACCAGGTCCTCCAGAGGCTGCTGGCCAGCGCCCTCCAG
Seq C2 exon
ACCCACGGCTTCCACCCCTGCTGGCCGAGGGGCTTTTCCACCCAAGTGCTGCTCGGGGATGTGTACCAGTCACCATGCACCATGGCCCAGCGGCCCCAGAACTTCAACAGCAGTGCCAGGGTCAGCCTGTCAGGGAGCAGTGACCCCCACCTCTGCCGAGATCTGGTTTCTGGGCTCTTCAGCTTCTCCTCCTGCCCCTTCTCCCGATGCTCTTTCAATGGGGTCTTCCAGCCCCCAGTGGCTGGGAACTTTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000054179-'5-5,'5-3,7-5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.039 C2=0.012
Domain overlap (PFAM):

C1:
PF0115012=GDA1_CD39=FE(15.0=100)
A:
PF0115012=GDA1_CD39=FE(21.2=100)
C2:
PF0115012=GDA1_CD39=FE(23.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGACTCACACACTGACCCAGT
R:
GCTGAAGAGCCCAGAAACCAG
Band lengths:
302-530
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains