HsaEX6035521 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186088145-186090917:+
Coord C1 exon
chr1:186088145-186088276
Coord A exon
chr1:186088606-186088755
Coord C2 exon
chr1:186090758-186090917
Length
150 bp
Sequences
Splice sites
3' ss Seq
TGCTTTGTTTCTACCTCTAGAAA
3' ss Score
10.1
5' ss Seq
AAGGTATGT
5' ss Score
9.79
Exon sequences
Seq C1 exon
TGCCACCCAGTATTGAAGGACCTGAAAGAGAAGTGATTGTGGAGACGATCAGCAATCCTGTGACATTAACATGTGATGCCACTGGGATCCCACCTCCCACGATAGCATGGTTAAAGAACCACAAGCGCATAG
Seq A exon
AAAATTCTGACTCACTGGAAGTTCGTATTTTGTCTGGAGGTAGCAAACTCCAGATTGCCCGGTCTCAGCATTCAGATAGTGGAAACTATACATGTATTGCTTCAAATATGGAGGGAAAAGCCCAGAAATATTACTTTCTTTCAATTCAAG
Seq C2 exon
TTCCTCCAAGTGTTGCTGGTGCTGAAATTCCAAGTGATGTCAGTGTCCTTCTAGGAGAAAATGTTGAGCTGGTCTGCAATGCAAATGGCATTCCTACTCCACTTATTCAATGGCTTAAAGATGGAAAGCCCATAGCTAGTGGTGAAACAGAAAGAATCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'100-97,'100-96,101-97=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.022 A=0.000 C2=0.037
Domain overlap (PFAM):
C1:
PF0767911=I-set=PU(46.2=93.3)
A:
PF0767911=I-set=PD(52.7=94.1)
C2:
PF0767911=I-set=PU(53.4=87.0)
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:
TGTGGAGACGATCAGCAATCC
R:
TGTTTCACCACTAGCTATGGGC
Band lengths:
244-394
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains