HsaEX6035568 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:185928546-185962659:+
Coord C1 exon
chr1:185928546-185928667
Coord A exon
chr1:185933549-185933824
Coord C2 exon
chr1:185962518-185962659
Length
276 bp
Sequences
Splice sites
3' ss Seq
AATTTTTTGATTTCACACAGAGC
3' ss Score
6.79
5' ss Seq
AAGGTACAG
5' ss Score
8.04
Exon sequences
Seq C1 exon
AGAATCTGCCAGTGTGAACTTAGATATTGCAAAGGTCACTTTGTCTGACGAAGGTTTCTATGAATGCATTGCTGTCAGCAGTGCAGGTACTGGACGGGCACAGACATTTTTTGACGTATCAG
Seq A exon
AGCCCCCTCCGGTCATCCAAGTGCCTAACAATGTTACAGTCACTCCTGGAGAGAGAGCAGTTTTAACATGTCTCATCATCAGTGCGGTGGATTACAATCTAACCTGGCAGAGGAATGACAGAGATGTCAGACTGGCAGAGCCAGCGAGAATTAGGACCTTGGCTAATCTGTCATTGGAGCTAAAGAGTGTGAAATTCAACGATGCTGGAGAGTATCATTGTATGGTTTCTAGTGAAGGTGGATCATCAGCCGCTTCAGTTTTCCTCACAGTGCAAG
Seq C2 exon
AACCACCCAAAGTCACTGTGATGCCCAAGAATCAGTCTTTCACAGGAGGGTCTGAGGTCTCCATCATGTGTTCTGCAACAGGTTATCCCAAACCAAAGATTGCCTGGACCGTTAACGATATGTTTATCGTGGGTTCACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'19-19,'19-16,21-19=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.043 C2=0.083
Domain overlap (PFAM):
C1:
PF0004720=ig=PD(42.9=57.1)
A:
PF0767911=I-set=WD(100=95.7)
C2:
PF0767911=I-set=PU(52.3=93.8)
Main Skipping Isoform:
ENST00000271588fB17137
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:
AGAATCTGCCAGTGTGAACTT
R:
CTGTGTGAACCCACGATAAACA
Band lengths:
264-540
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains