HsaEX0030170 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:185993182-185997524:+
Coord C1 exon
chr1:185993182-185993309
Coord A exon
chr1:185994815-185995087
Coord C2 exon
chr1:185997429-185997524
Length
273 bp
Sequences
Splice sites
3' ss Seq
TACCCAGTTATTATTTCTAGTTC
3' ss Score
3.86
5' ss Seq
AAGGTGATT
5' ss Score
5.88
Exon sequences
Seq C1 exon
ACACACATTCCTCCCTTCTGGTTCAATGAAGATCACTGAAACCCGCACTTCAGATAGTGGGATGTATCTTTGTGTTGCCACAAATATTGCTGGGAATGTGACTCAGGCTGTCAAATTAAATGTCCATG
Seq A exon
TTCCTCCAAAGATACAGCGTGGACCTAAACATCTCAAAGTCCAAGTTGGTCAAAGAGTGGATATTCCATGTAATGCTCAAGGGACTCCTCTTCCTGTAATCACCTGGTCCAAAGGTGGAAGCACTATGCTGGTTGATGGAGAGCACCATGTTAGCAATCCAGACGGAACTTTAAGCATCGACCAAGCCACGCCCTCAGATGCTGGCATATATACATGTGTTGCTACTAACATAGCAGGCACTGATGAAACAGAGATAACGCTACATGTCCAAG
Seq C2 exon
AACCACCCACAGTGGAAGATCTAGAACCTCCATATAACACTACTTTCCAAGAAAGAGTGGCCAATCAACGCATTGAATTTCCATGTCCTGCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'46-43,'46-41,48-43
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.189 A=0.301 C2=0.545
Domain overlap (PFAM):
C1:
PF0767911=I-set=PD(47.7=93.2)
A:
PF0767911=I-set=WD(100=95.7)
C2:
PF0767911=I-set=PU(23.8=60.6)
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:
ACACACATTCCTCCCTTCTGGT
R:
TGCAGGACATGGAAATTCAATGC
Band lengths:
220-493
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development