HsaEX6035571 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:185922379-185925191:+
Coord C1 exon
chr1:185922379-185922499
Coord A exon
chr1:185923390-185923653
Coord C2 exon
chr1:185925047-185925191
Length
264 bp
Sequences
Splice sites
3' ss Seq
ACAAAATCTTTCTCTTGTAGGAA
3' ss Score
9.97
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
ACCTCAAGCAGTGGAAGGCACTCTGTTCGCATTACTGGCCTCAGTACTATTGATTTCCGAGCTGGCTTTTCTCGAAAGCCCACCCTGGACTTCAAAAAAACAGTCAGCAGACCAGTGCAAG
Seq A exon
GAATACCTACCTATGTACTGCTCAATACTTCTGGAATTTCCACTCCAGCTAGAATAGATCTTCTTGAACTTTTGAGTATCTCAGGAAGTTCTCTTAAGACTATTCCTGTTAAATATTACCCACATCGAAAACCTTATGGCATATGGAATATTTCTGACTTTGTACCACCAAATGAAGCTTTCTTTCTCAAAGTAACAGGCTATGATAAAGATGATTACCTCTTCCAGAGAGTATCAAGTGTTTCCTTTTCTAGTATTGTCCCAG
Seq C2 exon
ATGCTCCCAAAGTTACGATGCCTGAGAAAACCCCAGGATACTATCTGCAGCCGGGCCAAATTCCCTGCTCTGTTGACAGTCTTTTGCCCTTTACCTTGAGCTTTGTCAGAAATGGAGTTACACTTGGAGTAGACCAGTATTTGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'16-13,'16-12,17-13
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.020
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0004720=ig=PU(55.4=63.3)
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:
CTCAAGCAGTGGAAGGCACTC
R:
TCAAATACTGGTCTACTCCAAGTGT
Band lengths:
263-527
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains