HsaEX6035489 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186152750-186165173:+
Coord C1 exon
chr1:186152750-186152871
Coord A exon
chr1:186153750-186153987
Coord C2 exon
chr1:186165111-186165173
Length
238 bp
Sequences
Splice sites
3' ss Seq
ATCCACATTGTTCTCCTTAGGAT
3' ss Score
8.68
5' ss Seq
AAGGTAATT
5' ss Score
8.83
Exon sequences
Seq C1 exon
GAGAAATCTTGCAGATGAGTCATATTGCCCGGGGCTTGGATTCCGATGGTTCTTTGCTGCTAGATATCGTTGTGAGTGGCTATGTCCTACAGCTTCAGTCACCTGCTGAAGTCACTGTAAAG
Seq A exon
GATTACACAGAGGACTACATTCAAACAGGTCCTGGGCAGCTGTACGCCTACTCAACCCGGCTGTTCACCATTGATGGCATCAGCATCCCATACACATGGAACCACACCGTTTTCTATGATCAGGCACAGGGAAGAATGCCTTTCTTGGTTGAAACACTTCATGCATCCTCTGTGGAATCTGACTATAACCAGATAGAAGAGACACTGGGTTTTAAAATTCATGCTTCAATATCCAAAG
Seq C2 exon
GAGATCGCAGTAATCAGTGCCCCTCCGGGTTTACCTTAGACTCAGTTGGACCTTTTTGTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'143-141,'143-139,145-141
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF074747=G2F=FE(21.3=100)
A:
PF074747=G2F=PD(26.1=61.2)
C2:
PF146701=FXa_inhibition=PU(4.9=9.1)
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:
ATCTTGCAGATGAGTCATATTGCCC
R:
CAGCACAAAAAGGTCCAACTGA
Band lengths:
180-418
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains