HsaEX6072097 @ hg38
Exon Skipping
Gene
ENSG00000156030 | ELMSAN1
Description
ELM2 and Myb/SANT domain containing 1 [Source:HGNC Symbol;Acc:HGNC:19853]
Coordinates
chr14:73727458-73737297:-
Coord C1 exon
chr14:73736998-73737297
Coord A exon
chr14:73729640-73729985
Coord C2 exon
chr14:73727458-73727524
Length
346 bp
Sequences
Splice sites
3' ss Seq
TGTTTTCTTTCCTTCTCCAGGCA
3' ss Score
11.85
5' ss Seq
CTAGTGAGT
5' ss Score
7.43
Exon sequences
Seq C1 exon
GATGGCAGTGGTTCTGAAGAGAAGCGGAAAAGTGTATTGGCCTCAACTACCAAGTGTGGGGTGGAGTTTTCTGAGCCTTCCTTAGCCACCAAGCGAGCACGAGAAGACAGTGGGATGGTACCCCTCATCATCCCAGTGTCTGTGCCTGTGCGAACTGTGGACCCAACTGAGGCAGCCCAGGCTGGAGGTCTTGATGAGGACGGGAAGGGTCCTGAACAGAACCCTGCTGAGCACAAGCCATCAGTCATCGTCACCCGCAGGCGGTCCACCCGAATCCCCGGGACAGATGCTCAAGCTCAG
Seq A exon
GCAGAGGACATGAATGTCAAGTTGGAGGGGGAGCCTTCCGTGCGGAAACCAAAGCAGCGGCCCAGGCCCGAGCCCCTCATCATCCCCACCAAGGCGGGCACTTTCATCGCCCCTCCCGTCTACTCCAACATCACCCCATACCAGAGCCACCTGCGCTCTCCCGTGCGCCTAGCTGACCACCCCTCTGAGCGGAGCTTTGAGCTACCTCCCTACACGCCGCCCCCCATCCTCAGCCCTGTGCGGGAAGGCTCTGGCCTCTACTTCAATGCCATCATATCAACCAGCACCATCCCTGCCCCTCCTCCCATCACGCCTAAGAGTGCCCATCGCACGCTGCTCCGGACTA
Seq C2 exon
ACAGTGCTGAAGTAACCCCGCCTGTCCTCTCTGTGATGGGGGAGGCCACCCCAGTGAGCATCGAGCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156030-'18-20,'18-16,22-20
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.958 A=0.691 C2=0.217
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCAGTGGTTCTGAAGAGAA
R:
CTCCCCCATCACAGAGAGGAC
Band lengths:
342-688
Functional annotations
There are 1 annotated functions for this event
PMID: 26538579
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: filter binding. ELM ID: ELMI003307; ELM sequence: RPRPEPLII; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains