HsaEX6035569 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:185925047-185933824:+
Coord C1 exon
chr1:185925047-185925191
Coord A exon
chr1:185928546-185928667
Coord C2 exon
chr1:185933549-185933824
Length
122 bp
Sequences
Splice sites
3' ss Seq
TTCCATTTTCTTACCTCCAGAGA
3' ss Score
9.32
5' ss Seq
CAGGTAATT
5' ss Score
8.55
Exon sequences
Seq C1 exon
ATGCTCCCAAAGTTACGATGCCTGAGAAAACCCCAGGATACTATCTGCAGCCGGGCCAAATTCCCTGCTCTGTTGACAGTCTTTTGCCCTTTACCTTGAGCTTTGTCAGAAATGGAGTTACACTTGGAGTAGACCAGTATTTGAA
Seq A exon
AGAATCTGCCAGTGTGAACTTAGATATTGCAAAGGTCACTTTGTCTGACGAAGGTTTCTATGAATGCATTGCTGTCAGCAGTGCAGGTACTGGACGGGCACAGACATTTTTTGACGTATCAG
Seq C2 exon
AGCCCCCTCCGGTCATCCAAGTGCCTAACAATGTTACAGTCACTCCTGGAGAGAGAGCAGTTTTAACATGTCTCATCATCAGTGCGGTGGATTACAATCTAACCTGGCAGAGGAATGACAGAGATGTCAGACTGGCAGAGCCAGCGAGAATTAGGACCTTGGCTAATCTGTCATTGGAGCTAAAGAGTGTGAAATTCAACGATGCTGGAGAGTATCATTGTATGGTTTCTAGTGAAGGTGGATCATCAGCCGCTTCAGTTTTCCTCACAGTGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'18-16,'18-14,19-16=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.020 A=0.000 C2=0.043
Domain overlap (PFAM):
C1:
PF0004720=ig=PU(55.4=63.3)
A:
PF0004720=ig=PD(42.9=57.1)
C2:
PF0767911=I-set=WD(100=95.7)
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:
GGCCAAATTCCCTGCTCTGTT
R:
AGGTCCTAATTCTCGCTGGCT
Band lengths:
251-373
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains