Special

HsaEX0021812 @ hg38

Exon Skipping

Gene
Description
EGF like domain multiple 7 [Source:HGNC Symbol;Acc:HGNC:20594]
Coordinates
chr9:136669914-136671014:+
Coord C1 exon
chr9:136669914-136670009
Coord A exon
chr9:136670169-136670330
Coord C2 exon
chr9:136670950-136671014
Length
162 bp
Sequences
Splice sites
3' ss Seq
TGACACCCCGTTTCCTGCAGATG
3' ss Score
9.98
5' ss Seq
CAGGTAAAC
5' ss Score
7.82
Exon sequences
Seq C1 exon
CAATATGCCAGCCGCCATGCCGGAACGGAGGGAGCTGTGTCCAGCCTGGCCGCTGCCGCTGCCCTGCAGGATGGCGGGGTGACACTTGCCAGTCAG
Seq A exon
ATGTGGATGAATGCAGTGCTAGGAGGGGCGGCTGTCCCCAGCGCTGCGTCAACACCGCCGGCAGTTACTGGTGCCAGTGTTGGGAGGGGCACAGCCTGTCTGCAGACGGTACACTCTGTGTGCCCAAGGGAGGGCCCCCCAGGGTGGCCCCCAACCCGACAG
Seq C2 exon
GAGTGGACAGTGCAATGAAGGAAGAAGTGCAGAGGCTGCAGTCCAGGGTGGACCTGCTGGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172889-'30-25,'30-22,32-25
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.200 C2=0.455
Domain overlap (PFAM):

C1:
PF079748=EGF_2=WD(100=84.8),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=72.7)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
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:
AATATGCCAGCCGCCATGC
R:
CTCCTCCAGCAGGTCCACC
Band lengths:
160-322
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development