HsaEX0030180 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186174514-186182287:+
Coord C1 exon
chr1:186174514-186174642
Coord A exon
chr1:186178416-186178766
Coord C2 exon
chr1:186182168-186182287
Length
351 bp
Sequences
Splice sites
3' ss Seq
ATATCATGGCATACGAGCAGACA
3' ss Score
-0.23
5' ss Seq
TAGGTAAAT
5' ss Score
6.62
Exon sequences
Seq C1 exon
ATATTGATGAATGTAAAGATGGGACCCATCAGTGCAGATATAACCAGATATGTGAGAATACAAGAGGCAGCTATCGTTGTGTATGCCCAAGAGGTTATCGGTCTCAAGGAGTTGGAAGACCCTGCATGG
Seq A exon
ACATTAATGAATGTGAACAAGTGCCTAAACCTTGTGCACATCAGTGCTCCAACACCCCCGGCAGCTTCAAGTGTATCTGTCCACCAGGACAACATTTATTAGGGGACGGGAAATCTTGCGCTGGATTGGAGAGGCTGCCAAATTATGGCACTCAATACAGTAGCTATAACCTTGCACGGTTCTCCCCTGTGAGAAACAACTATCAACCTCAACAGCATTACAGACAGTACTCACATCTCTACAGCTCCTACTCAGAGTATAGAAACAGCAGAACATCTCTCTCCAGGACTAGAAGGACTATTAGGAAAACTTGCCCTGAAGGCTCTGAGGCAAGCCATGACACATGTGTAG
Seq C2 exon
ATATTGATGAATGTGAAAATACAGATGCCTGCCAGCATGAGTGTAAGAATACCTTTGGAAGTTATCAGTGCATCTGCCCACCTGGCTATCAACTCACACACAATGGAAAGACATGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'237-153,'237-152,241-153
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.034 C2=0.000
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=95.5),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=33.9)
C2:
PF126622=cEGF=PU(83.3=48.8)
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:
TTGATGAATGTAAAGATGGGACCCA
R:
CTTGGCATGTCTTTCCATTGTGT
Band lengths:
246-597
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development