Special

HsaEX6064187 @ hg38

Exon Skipping

Gene
ENSG00000054179 | ENTPD2
Description
ectonucleoside triphosphate diphosphohydrolase 2 [Source:HGNC Symbol;Acc:HGNC:3364]
Coordinates
chr9:137051211-137052348:-
Coord C1 exon
chr9:137052231-137052348
Coord A exon
chr9:137051510-137051660
Coord C2 exon
chr9:137051211-137051370
Length
151 bp
Sequences
Splice sites
3' ss Seq
ATCTCTCTGCCTCCCTCTAGGTG
3' ss Score
13.5
5' ss Seq
CAAGTGAGT
5' ss Score
9.1
Exon sequences
Seq C1 exon
TATGGCATCGTCCTGGACGCTGGTTCTTCACACACGTCCATGTTTATCTACAAGTGGCCGGCAGACAAGGAGAACGACACAGGCATTGTGGGCCAGCACAGCTCCTGTGATGTTCCAG
Seq A exon
GTGGGGGCATCTCCAGCTATGCAGACAACCCTTCTGGGGCCAGCCAGAGTCTTGTTGGATGCCTCGAACAGGCGCTTCAGGATGTGCCCAAAGAGAGACACGCGGGCACACCCCTCTACCTGGGAGCCACAGCGGGTATGCGCCTGCTCAA
Seq C2 exon
CCTGACCAATCCAGAGGCCTCGACCAGTGTGCTCATGGCAGTGACTCACACACTGACCCAGTACCCCTTTGACTTCCGGGGTGCACGCATCCTCTCGGGCCAGGAAGAGGGGGTGTTTGGCTGGGTGACTGCCAACTACCTGCTGGAGAACTTCATCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000054179-'2-2,'2-1,4-2=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.075 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0115012=GDA1_CD39=FE(11.0=100)
A:
PF0115012=GDA1_CD39=FE(14.1=100)
C2:
PF0115012=GDA1_CD39=FE(15.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
([1])
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGACGCTGGTTCTTCACAC
R:
CAGCAGGTAGTTGGCAGTCAC
Band lengths:
251-402
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains