Special

HsaEX1012984 @ hg38

Exon Skipping

Gene
ENSG00000156030 | ELMSAN1
Description
ELM2 and Myb/SANT domain containing 1 [Source:HGNC Symbol;Acc:HGNC:19853]
Coordinates
chr14:73738560-73789959:-
Coord C1 exon
chr14:73789825-73789959
Coord A exon
chr14:73759997-73760133
Coord C2 exon
chr14:73738560-73740255
Length
137 bp
Sequences
Splice sites
3' ss Seq
CTCTTTTTTTTTTTTTCAAGCTG
3' ss Score
9.14
5' ss Seq
CAAGCGGGG
5' ss Score
-7.22
Exon sequences
Seq C1 exon
GACAAAGCCCTGACTCCACAGCCACTGTTTGGGCCAAGCCCTCAGGGATCAGGGTAAATGCCTGGAGGAGGAGGAAGAGGATGCCTGGACAGATGTCAATTCTGGTGACACAAAGACATCTGTATGTGCTGTCAG
Seq A exon
CTGTGAGCTCAACCGATGAGTCAGAGCCGTGCAATCCTGACACTGCATCGCAGGACTGGGGGTGACACGGAGGGAGGCAGAGCGCTCGCGAGGCGGACGGCACGGGTGCGGGGCGCGCCGAGGCTCCTGCATCGCAA
Seq C2 exon
GTGCCAGAACCCTGTGGAGCATCATGAACTGGGAAGAGTAGCTGAGCCCCAGAGCCTCTCTGGAAGAGAAAGGAAGAGCCAGCAGTTCTTTCTCCCAGTGTCCGACCTCACTGTCCAGCGTCTTCCTCTGCCCCTGCTCTGCCCTCCCTGGCTCCTGGACTAGAGCCCGGCTTCCAGCAGGACGTTTCCCCAGGGGATGGGCGACTGTTGAAGGGGATCTCACCGCCAGGGCTCAGTTGGCCACATCATGAACCTCCAGGCCCAGCCCAAGGCTCAGAACAAGCGGAAGCGTTGCCTCTTCGGGGGCCAGGAACCAGCTCCCAAGGAGCAGCCCCCTCCCCTGCAGCCCCCCCAGCAGTCCATCAGAGTGAAGGAGGAGCAGTACCTCGGGCACGAGGGTCCAGGAGGGGCAGTCTCCACCTCTCAGCCTGTGGAACTGCCCCCTCCTAGCAGCCTGGCCCTGCTGAACTCTGTGGTATATGGGCCTGAGCGGACCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156030_MULTIEX2-2/4=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

5' UTR

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=NA C2=0.965
Domain overlap (PFAM):

C1:
NA
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACAAAGCCCTGACTCCACAG
R:
GGTCGGACACTGGGAGAAAGA
Band lengths:
242-379
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains