Special

HsaEX0038743 @ hg38

Exon Skipping

Gene
Description
multiple EGF like domains 6 [Source:HGNC Symbol;Acc:HGNC:3232]
Coordinates
chr1:3492639-3494499:-
Coord C1 exon
chr1:3494371-3494499
Coord A exon
chr1:3493771-3493797
Coord C2 exon
chr1:3492639-3492767
Length
27 bp
Sequences
Splice sites
3' ss Seq
TCTCTGCCTTTGCCCACCAGGGC
3' ss Score
9.68
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
Exon sequences
Seq C1 exon
CCTGTCCCCCTGGGCGCTACGGAGCCGCCTGCCATCTGGAGTGCTCCTGCCACAACAACAGCACGTGTGAGCCTGCCACGGGCACCTGCCGCTGCGGCCCCGGCTTCTATGGCCAGGCCTGCGAGCACC
Seq A exon
GGCGCTCAGGAGCCACCTGTAACCTGG
Seq C2 exon
ATTGCAGAAGGGGCCAGTTTGGGCCCAGCTGCACCCTGCACTGTGACTGCGGGGGTGGGGCTGACTGCGACCCTGTCAGTGGGCAGTGTCACTGTGTGGATGGCTACATGGGGCCCACGTGCCGGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162591-'72-84,'72-82,74-84
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF0005319=Laminin_EGF=PU(66.7=68.2)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGTGCTCCTGCCACAACAAC
R:
CAAACTGGCCCCTTCTGCAAT
Band lengths:
112-139
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development