HsaEX6035576 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:185846026-185865863:+
Coord C1 exon
chr1:185846026-185846096
Coord A exon
chr1:185864470-185864628
Coord C2 exon
chr1:185865741-185865863
Length
159 bp
Sequences
Splice sites
3' ss Seq
TTTTTCTCTCCACTCAACAGGGT
3' ss Score
9.49
5' ss Seq
CAAGTGAGT
5' ss Score
9.1
Exon sequences
Seq C1 exon
AAATTGGCCCAGTGACAATTACCACAGATCCCAAGAAATTTCAATATGAACTCAGAGAACTGTATGTTCAG
Seq A exon
GGTGGTGGTGATTGCCCAGAAATGAGTATTGGAGCTATAAAAATTGCCTTGGAAATTTCTCTTCCTGGTTCTTTCATCTATGTTTTCACTGATGCTCGGTCCAAAGATTACCGGCTCACCCATGAGGTGCTGCAACTTATCCAACAGAAACAGTCACAA
Seq C2 exon
GTCGTATTTGTTCTGACTGGAGATTGTGATGACAGGACCCATATTGGATATAAAGTCTATGAAGAAATTGCCTCTACAAGTTCTGGTCAAGTGTTCCATCTGGACAAAAAACAAGTTAATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'8-4,'8-3,9-4=AN
Average complexity
A_C1
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:
PF135191=VWA_2=FE(13.4=100)
A:
PF135191=VWA_2=FE(30.2=100)
C2:
PF135191=VWA_2=FE(23.3=100)
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:
GGCCCAGTGACAATTACCACA
R:
TGGAACACTTGACCAGAACTTGT
Band lengths:
164-323
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains