HsaEX6035577 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:185734551-185864628:+
Coord C1 exon
chr1:185734551-185735047
Coord A exon
chr1:185846026-185846096
Coord C2 exon
chr1:185864470-185864628
Length
71 bp
Sequences
Splice sites
3' ss Seq
TGTTATTTTTATCTTCACAGAAA
3' ss Score
9.74
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GAAGCCGCATCCAGACAAAAGCTGCCGCATCCCTGCCCTGCCCAACCCCTGGAGGGATTCGAGTTTGGTGCTTGTCCCCGTCTGATTCTCAGCGCCAAACTTTTTGCTAGTTCAGAGATTCCAAGAGTCTGATGAGTTACTCTGAGAGGAAACCCTCTGCCTGTTGTTGAGGAGGACTGAGCACAGTGCTTAGGCGCTGAGGGGGAAAAAGAGGGGGAAAAAAAAGAAAATGATTTCCTGGGAAGTTGTCCATACAGTATTCCTGTTTGCTCTTCTTTATTCTTCCCTAGCTCAAGATGCGAGCCCCCAGTCAGAGATCAGAGCTGAGGAAATTCCCGAGGGGGCCTCCACGTTGGCTTTTGTGTTTGATGTGACTGGTTCTATGTATGATGATTTAGTTCAGGTGATTGAAGGGGCTTCCAAAATTTTGGAGACGTCTTTGAAAAGACCTAAAAGACCTCTTTTCAACTTTGCGTTGGTGCCTTTCCATGATCCAG
Seq A exon
AAATTGGCCCAGTGACAATTACCACAGATCCCAAGAAATTTCAATATGAACTCAGAGAACTGTATGTTCAG
Seq C2 exon
GGTGGTGGTGATTGCCCAGAAATGAGTATTGGAGCTATAAAAATTGCCTTGGAAATTTCTCTTCCTGGTTCTTTCATCTATGTTTTCACTGATGCTCGGTCCAAAGATTACCGGCTCACCCATGAGGTGCTGCAACTTATCCAACAGAAACAGTCACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'0-3,'0-2,8-3
Average complexity
C1
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:
PF135191=VWA_2=PU(28.5=54.4)
A:
PF135191=VWA_2=FE(13.4=100)
C2:
PF135191=VWA_2=FE(30.2=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
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:
CCTCCACGTTGGCTTTTGTGT
R:
TTTCTGGGCAATCACCACCAC
Band lengths:
175-246
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains