HsaEX6072099 @ hg38
Exon Skipping
Gene
ENSG00000156030 | ELMSAN1
Description
ELM2 and Myb/SANT domain containing 1 [Source:HGNC Symbol;Acc:HGNC:19853]
Coordinates
chr14:73726033-73726972:-
Coord C1 exon
chr14:73726830-73726972
Coord A exon
chr14:73726604-73726707
Coord C2 exon
chr14:73726033-73726108
Length
104 bp
Sequences
Splice sites
3' ss Seq
TCATGCTCCTGTGGATCCAGTGG
3' ss Score
3.73
5' ss Seq
CTGGTGAGA
5' ss Score
7.54
Exon sequences
Seq C1 exon
ACGGATCAACGTGGGCTCCCGGTTCCAGGCAGAAATCCCCTTGATGAGGGACCGTGCCCTGGCAGCTGCAGATCCCCACAAGGCTGACTTGGTGTGGCAGCCATGGGAGGACCTAGAGAGCAGCCGGGAGAAGCAGAGGCAAG
Seq A exon
TGGAAGACCTGCTGACAGCCGCCTGCTCCAGCATTTTCCCTGGTGCTGGCACCAACCAGGAGCTGGCCCTGCACTGTCTGCACGAATCCAGAGGAGACATCCTG
Seq C2 exon
GAAACGCTGAATAAGCTGCTGCTGAAGAAGCCCCTGCGGCCCCACAACCATCCGCTGGCAACTTATCACTACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156030-'25-25,'25-24,26-25
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.064 A=0.000 C2=0.038
Domain overlap (PFAM):
C1:
PF0144819=ELM2=PU(79.3=93.9)
A:
PF0144819=ELM2=PD(19.0=31.4)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACGGATCAACGTGGGCTCC
R:
TGTGTAGTGATAAGTTGCCAGCG
Band lengths:
218-322
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains