Special

HsaEX0009489 @ hg38

Exon Skipping

Gene
ENSG00000156030 | ELMSAN1
Description
ELM2 and Myb/SANT domain containing 1 [Source:HGNC Symbol;Acc:HGNC:19853]
Coordinates
chr14:73721297-73725360:-
Coord C1 exon
chr14:73725272-73725360
Coord A exon
chr14:73722698-73722847
Coord C2 exon
chr14:73721297-73721509
Length
150 bp
Sequences
Splice sites
3' ss Seq
CAGTTTTGACTTCAAACCAGATC
3' ss Score
3.21
5' ss Seq
AAGGTGACT
5' ss Score
6.64
Exon sequences
Seq C1 exon
GCTCTGACCAGTGGAAGATGGCCGAGAGGAAGCTGTTCAACAAAGGCATTGCCATCTACAAGAAGGATTTCTTCCTGGTGCAGAAGCTG
Seq A exon
ATCCAGACCAAGACCGTGGCCCAGTGCGTGGAGTTCTACTACACCTACAAGAAGCAGGTGAAAATCGGCCGCAATGGGACTCTAACCTTTGGGGATGTGGATACGAGCGATGAGAAGTCGGCCCAGGAAGAGGTTGAAGTGGATATTAAG
Seq C2 exon
ACTTCCCAAAAGTTCCCAAGGGTGCCTCTTCCCAGAAGAGAGTCCCCAAGTGAAGAGAGGCTGGAGCCCAAGAGGGAGGTGAAGGAGCCCAGGAAGGAGGGGGAGGAGGAGGTGCCAGAGATCCAAGAGAAGGAGGAGCAGGAAGAGGGGCGAGAGCGCAGCAGGCGGGCAGCGGCAGTCAAAGCCACGCAGACACTACAGGCCAATGAGTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156030_MULTIEX1-3/3=1-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.460 C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000286523fB14691


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTGTTCAACAAAGGCATTGC
R:
TAGTGTCTGCGTGGCTTTGAC
Band lengths:
257-407
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