HsaEX6072100 @ hg38
Exon Skipping
Gene
ENSG00000156030 | ELMSAN1
Description
ELM2 and Myb/SANT domain containing 1 [Source:HGNC Symbol;Acc:HGNC:19853]
Coordinates
chr14:73725272-73726707:-
Coord C1 exon
chr14:73726604-73726707
Coord A exon
chr14:73726033-73726108
Coord C2 exon
chr14:73725272-73725360
Length
76 bp
Sequences
Splice sites
3' ss Seq
TTCCCTCACTTCCCCTCCAGGAA
3' ss Score
12.2
5' ss Seq
CAGGTGGGC
5' ss Score
8.07
Exon sequences
Seq C1 exon
TGGAAGACCTGCTGACAGCCGCCTGCTCCAGCATTTTCCCTGGTGCTGGCACCAACCAGGAGCTGGCCCTGCACTGTCTGCACGAATCCAGAGGAGACATCCTG
Seq A exon
GAAACGCTGAATAAGCTGCTGCTGAAGAAGCCCCTGCGGCCCCACAACCATCCGCTGGCAACTTATCACTACACAG
Seq C2 exon
GCTCTGACCAGTGGAAGATGGCCGAGAGGAAGCTGTTCAACAAAGGCATTGCCATCTACAAGAAGGATTTCTTCCTGGTGCAGAAGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156030-'26-27,'26-25,28-27
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.038 C2=0.000
Domain overlap (PFAM):
C1:
PF0144819=ELM2=PD(19.0=31.4)
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:
CTCCAGCATTTTCCCTGGTGC
R:
CAGCTTCTGCACCAGGAAGAA
Band lengths:
168-244
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains