HsaEX6035539 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186045688-186053074:+
Coord C1 exon
chr1:186045688-186045863
Coord A exon
chr1:186048743-186048839
Coord C2 exon
chr1:186052952-186053074
Length
97 bp
Sequences
Splice sites
3' ss Seq
AAGGATGATTTTGTTTTCAGATT
3' ss Score
6.44
5' ss Seq
GGGGTAAGT
5' ss Score
9.65
Exon sequences
Seq C1 exon
TTCCGCCAAATATTATGGGAGAAGAACAGAATGTCTCTGTCCTCATTAGCCAAGCTGTGGAATTACTATGTCAAAGTGATGCTATTCCCCCACCTACTCTTACTTGGTTAAAAGACGGCCACCCCTTGCTGAAGAAACCAGGCCTCAGTATATCTGAAAATAGAAGTGTGTTAAAG
Seq A exon
ATTGAAGATGCTCAGGTTCAAGACACTGGTCGTTACACTTGTGAAGCAACAAATGTTGCTGGAAAAACTGAAAAAAACTACAATGTCAACATTTGGG
Seq C2 exon
TCCCCCCAAATATTGGTGGTTCTGATGAACTTACTCAACTTACAGTCATTGAAGGGAATCTCATTAGTCTGTTGTGTGAATCAAGTGGTATTCCACCCCCAAATCTCATCTGGAAGAAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'71-70,'71-69,72-70=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=0.000 A=0.030 C2=0.000
Domain overlap (PFAM):
C1:
PF0767911=I-set=PU(63.6=94.9)
A:
PF0767911=I-set=PD(34.1=90.9)
C2:
PF0767911=I-set=PU(39.1=81.0)
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:
CCCCTTGCTGAAGAAACCAGG
R:
CCAGATGAGATTTGGGGGTGG
Band lengths:
168-265
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains