HsaEX6035520 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186088606-186093258:+
Coord C1 exon
chr1:186088606-186088755
Coord A exon
chr1:186090758-186090917
Coord C2 exon
chr1:186093134-186093258
Length
160 bp
Sequences
Splice sites
3' ss Seq
TCCTAATTATTTCTCCAAAGTTC
3' ss Score
5.52
5' ss Seq
CCGGTATGT
5' ss Score
9.2
Exon sequences
Seq C1 exon
AAAATTCTGACTCACTGGAAGTTCGTATTTTGTCTGGAGGTAGCAAACTCCAGATTGCCCGGTCTCAGCATTCAGATAGTGGAAACTATACATGTATTGCTTCAAATATGGAGGGAAAAGCCCAGAAATATTACTTTCTTTCAATTCAAG
Seq A exon
TTCCTCCAAGTGTTGCTGGTGCTGAAATTCCAAGTGATGTCAGTGTCCTTCTAGGAGAAAATGTTGAGCTGGTCTGCAATGCAAATGGCATTCCTACTCCACTTATTCAATGGCTTAAAGATGGAAAGCCCATAGCTAGTGGTGAAACAGAAAGAATCCG
Seq C2 exon
AGTGAGTGCAAATGGCAGCACATTAAACATTTATGGAGCTCTTACATCTGACACGGGGAAATACACATGTGTTGCTACTAATCCCGCTGGAGAAGAAGACCGAATTTTTAACTTGAATGTCTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'101-98,'101-97,102-98=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=0.037 C2=0.000
Domain overlap (PFAM):
C1:
PF0767911=I-set=PD(52.7=94.1)
A:
PF0767911=I-set=PU(53.4=87.0)
C2:
PF0767911=I-set=PD(45.5=93.0)
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:
TCTGACTCACTGGAAGTTCGT
R:
GGTCTTCTTCTCCAGCGGGAT
Band lengths:
246-406
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains