HsaEX6035572 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:185911674-185923653:+
Coord C1 exon
chr1:185911674-185911780
Coord A exon
chr1:185922379-185922499
Coord C2 exon
chr1:185923390-185923653
Length
121 bp
Sequences
Splice sites
3' ss Seq
TTGTCATTAAACATTTTCAGACC
3' ss Score
6.08
5' ss Seq
AAGGTTTGT
5' ss Score
7.81
Exon sequences
Seq C1 exon
GGAAGCTGATAAAAAAGGGATTTGGCCTGCATGAGCTATTAAATATCCATAACTCTGCCAAAGTAGTGAATGTGAAAGAGCCAGAGGCTGGAATGTGGACAGTGAAG
Seq A exon
ACCTCAAGCAGTGGAAGGCACTCTGTTCGCATTACTGGCCTCAGTACTATTGATTTCCGAGCTGGCTTTTCTCGAAAGCCCACCCTGGACTTCAAAAAAACAGTCAGCAGACCAGTGCAAG
Seq C2 exon
GAATACCTACCTATGTACTGCTCAATACTTCTGGAATTTCCACTCCAGCTAGAATAGATCTTCTTGAACTTTTGAGTATCTCAGGAAGTTCTCTTAAGACTATTCCTGTTAAATATTACCCACATCGAAAACCTTATGGCATATGGAATATTTCTGACTTTGTACCACCAAATGAAGCTTTCTTTCTCAAAGTAACAGGCTATGATAAAGATGATTACCTCTTCCAGAGAGTATCAAGTGTTTCCTTTTCTAGTATTGTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'14-12,'14-11,16-12
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.056 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAAGGGATTTGGCCTGCATGA
R:
TTCCATATGCCATAAGGTTTTCGA
Band lengths:
242-363
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains