Special

HsaEX0020817 @ hg38

Exon Skipping

Gene
Description
dolichyl-phosphate mannosyltransferase subunit 2, regulatory [Source:HGNC Symbol;Acc:HGNC:3006]
Coordinates
chr9:127935099-127937523:-
Coord C1 exon
chr9:127937434-127937523
Coord A exon
chr9:127936553-127936655
Coord C2 exon
chr9:127935099-127935780
Length
103 bp
Sequences
Splice sites
3' ss Seq
AGCTCTTCCCTCGATGCCAGCCA
3' ss Score
3.72
5' ss Seq
TGGGTAAGT
5' ss Score
10.24
Exon sequences
Seq C1 exon
GCCACGGGGACAGACCAGGTGGTGGGACTCGGCCTCGTCGCCGTTAGCCTGATCATCTTCACCTACTACACCGCCTGGGTGATTCTCTTG
Seq A exon
CCATTCATCGACAGTCAGCATGTCATCCACAAGTATTTCCTGCCCCGAGCCTATGCTGTCGCCATCCCACTGGCTGCAGGCCTCCTGCTGCTCCTGTTTGTGG
Seq C2 exon
GACTGTTCATCTCCTATGTGATGCTGAAGACCAAGAGAGTGACCAAGAAGGCTCAGTGAAGGTCCCGCAGGGATGAGGCTGCCAGCCCCTTCTCTGCTTCCCCTCCAGCACAGGGACCAAGTGGGGGAGCCTGCAGAACCTGTCCAGGCACAGTGGCTCCTCAAGCCTGCCTGTCCTGCAGAGTCCCCATGGCATGGAGCTTACACCTGACTGACTGGAGCCCCCTCCCCGACTCCCACTTCCAGAAGCTAGGAGGGAGGGATACCTGGAAGACTCCGGTCACCTCCTTCTTGCTCAGGGCCTAAAAGATGCTGGTCCTCCCAACCTCACTCTCAGACTCCCTGCCACCTTTTCCCCTGGGTTCTGCCGTCTTGCCTCACTTCCCCTCCTGTCACATGCTGACGTTGGACTTAGCAGGTTCTAAGGCCACATGTGTGACCTCTCTGACTTCTCTTCCTCCACCAAGGCAGCTTTCCTTACCCTGACACAGCCCCAGACCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136908-'2-8,'2-6,4-8
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.015 C2=0.000
Domain overlap (PFAM):

C1:
PF072977=DPM2=PU(33.8=90.0),PF085107=PIG-P=PU(32.5=86.7)
A:
PF072977=DPM2=FE(42.5=100),PF085107=PIG-P=FE(42.5=100)
C2:
PF072977=DPM2=PD(21.2=85.0),PF085107=PIG-P=PD(22.5=90.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCACCTACTACACCGCCTGG
R:
GTCAGGTGTAAGCTCCATGCC
Band lengths:
244-347
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development