HsaEX6072101 @ hg38
Exon Skipping
Gene
ENSG00000156030 | ELMSAN1
Description
ELM2 and Myb/SANT domain containing 1 [Source:HGNC Symbol;Acc:HGNC:19853]
Coordinates
chr14:73718843-73721509:-
Coord C1 exon
chr14:73721297-73721509
Coord A exon
chr14:73719305-73719501
Coord C2 exon
chr14:73718843-73719008
Length
197 bp
Sequences
Splice sites
3' ss Seq
CCTTGTTTGATTTTCTTCAGGCC
3' ss Score
9.38
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
ACTTCCCAAAAGTTCCCAAGGGTGCCTCTTCCCAGAAGAGAGTCCCCAAGTGAAGAGAGGCTGGAGCCCAAGAGGGAGGTGAAGGAGCCCAGGAAGGAGGGGGAGGAGGAGGTGCCAGAGATCCAAGAGAAGGAGGAGCAGGAAGAGGGGCGAGAGCGCAGCAGGCGGGCAGCGGCAGTCAAAGCCACGCAGACACTACAGGCCAATGAGTCG
Seq A exon
GCCAGTGACATCCTCATCCTCCGGAGCCACGAGTCCAACGCCCCTGGGTCTGCCGGTGGCCAGGCCTCGGAGAAGCCAAGGGAAGGGACAGGGAAGTCACGAAGGGCACTACCTTTTTCAGAGAAGAAGAAAAAAACAGAGACATTCAGTAAGACCCAGAATCAGGAGAACACTTTCCCCTGTAAAAAATGTGGCAG
Seq C2 exon
GGTGTTTTACAAGGTGAAGAGCCGCAGTGCGCATATGAAGAGCCACGCAGAGCAGGAGAAGAAGGCTGCAGCGCTGAGGCTGAAGGAGAAAGAGGCCGCTGCTGCCGCCGCCGCCGCCCACCAGCAGGCCCTGCGGGAGGAGAGCGGTGCGGGCGACAAGGGCTGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156030-'36-40,'36-38,43-40=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.944 C2=0.891
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAAAGTTCCCAAGGGTGCCT
R:
TGGCTCTTCATATGCGCACTG
Band lengths:
252-449
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains