HsaEX0030175 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186165111-186166942:+
Coord C1 exon
chr1:186165111-186165173
Coord A exon
chr1:186166184-186166303
Coord C2 exon
chr1:186166808-186166942
Length
120 bp
Sequences
Splice sites
3' ss Seq
CTTTTTGTTTCTTCTTTAAGATG
3' ss Score
9.38
5' ss Seq
AAGGTATTC
5' ss Score
6.8
Exon sequences
Seq C1 exon
GAGATCGCAGTAATCAGTGCCCCTCCGGGTTTACCTTAGACTCAGTTGGACCTTTTTGTGCTG
Seq A exon
ATGAGGATGAATGTGCAGCAGGGAATCCCTGCTCCCATAGCTGCCACAATGCCATGGGGACTTACTACTGCTCCTGCCCTAAAGGCCTCACCATAGCTGCAGATGGAAGAACTTGTCAAG
Seq C2 exon
ATATTGATGAGTGTGCTTTGGGTAGGCATACCTGCCACGCTGGTCAGGACTGTGACAATACGATTGGATCTTATCGCTGTGTGGTCCGTTGTGGAAGTGGCTTTCGAAGAACCTCTGATGGGCTGAGTTGTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'230-145,'230-143,231-145
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=0.000
Domain overlap (PFAM):
C1:
PF146701=FXa_inhibition=PU(4.9=9.1)
A:
PF146701=FXa_inhibition=PD(92.7=92.7),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.7),PF0764510=EGF_CA=PU(0.1=0.0)
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:
GAGATCGCAGTAATCAGTGCCC
R:
ACAACTCAGCCCATCAGAGGT
Band lengths:
194-314
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development