Special

HsaEX1013145 @ hg38

Exon Skipping

Gene
ENSG00000138185 | ENTPD1
Description
ectonucleoside triphosphate diphosphohydrolase 1 [Source:HGNC Symbol;Acc:HGNC:3363]
Coordinates
chr10:95864724-95877375:+
Coord C1 exon
chr10:95864724-95864861
Coord A exon
chr10:95865273-95865411
Coord C2 exon
chr10:95876529-95877375
Length
139 bp
Sequences
Splice sites
3' ss Seq
TTGTTGGTTATTACTTCAAGGTT
3' ss Score
4.75
5' ss Seq
CAGGTATCC
5' ss Score
7.91
Exon sequences
Seq C1 exon
ATAAAAACATCTTACGCTGGAGTAAAGGAGAAGTACCTGAGTGAATACTGCTTTTCTGGTACCTACATTCTCTCCCTCCTTCTGCAAGGCTATCATTTCACAGCTGATTCCTGGGAGCACATCCATTTCATTGGCAAG
Seq A exon
GTTGACCAATCTGAAAGCTCTGTGTGAAGAAGGGGACTGAGTGGCTGTGAATGATGAGACCGTTGTTTAGAAGCCAGGCTTAGCCTGAGTCCGGAAGAAGCAACCTCAATGCTGTGCTTTACCATAGCACCACCTGCAG
Seq C2 exon
TCAACTGAACCATCTTCTTGGAGTACTCATGAAGATGGAAGTCTACATGGAGAATACAGGATGAATCCACTCTGTCTCCTGCAGTGAAGTCTGTTTGAAGGATGTATTTGGCTGTCTTCTGGACAGGCCATTCTAATAACAGAAACAAACAAGTTATTTTAAAACTTATTGGAATATTCAAATATTAACCAAAGTAGAAAAATATAATACACATCCATGTGCCCATCACAGAACTTCACTGATTATCATCATTTAGCCAGTCTTGAAGAAGCAAGTGCTAATTACAATCACAAATGAAACAAGATTCAGACTTCATGAAGAGCACTGCGCTATAATAAAAGAAGAAATGAGCACATACATTCTTTTACTGACAGTCAAATGGTGAAGGTGGGCAGAATCATTATGTGATGCAACATGGCAAAAGTATACAGACAGTGCATCCAGAGGAAGGCACCTTGCTGAATGACTAGAATGGAAGTAGGAGACATTTTGCAGGCCCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138185_MULTIEX1-1/4=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0115012=GDA1_CD39=FE(10.4=100)
A:
PF0115012=GDA1_CD39=PD(1.7=77.8)
C2:
NA


Main Inclusion Isoform:
ENST00000371205fB14803


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACGCTGGAGTAAAGGAGAAGT
R:
CCAGAAGACAGCCAAATACATCCT
Band lengths:
247-386
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains