HsaEX6035494 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186144533-186145923:+
Coord C1 exon
chr1:186144533-186144703
Coord A exon
chr1:186145403-186145573
Coord C2 exon
chr1:186145753-186145923
Length
171 bp
Sequences
Splice sites
3' ss Seq
CAGATTATTCTGTCTTGTAGCCC
3' ss Score
6.2
5' ss Seq
CTGGTGAGC
5' ss Score
8.05
Exon sequences
Seq C1 exon
TTCATGGCAAGTGGGCGACTTGGGCCAGTTGGAGTGCCTGTTCTGTGTCATGTGGAGGAGGTGCCAGACAGAGAACAAGGGGCTGCTCCGACCCTGTGCCCCAGTATGGAGGAAGGAAATGCGAAGGGAGTGATGTCCAGAGTGATTTTTGCAACAGTGACCCTTGCCCAA
Seq A exon
CCCATGGTAACTGGAGTCCTTGGAGTGGCTGGGGAACATGCAGCCGGACGTGTAACGGAGGGCAGATGCGGCGGTACCGCACATGTGATAACCCTCCTCCCTCCAATGGGGGAAGAGCTTGTGGGGGACCAGACTCCCAGATCCAGAGGTGCAACACTGACATGTGTCCTG
Seq C2 exon
TGGATGGAAGTTGGGGAAGCTGGCATAGTTGGAGCCAGTGCTCTGCCTCCTGTGGAGGAGGTGAAAAGACTCGGAAGCGGCTGTGCGACCATCCTGTGCCAGTTAAAGGTGGCCGTCCCTGTCCCGGAGACACTACTCAGGTGACCAGGTGCAATGTACAAGCATGTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'136-133,'136-132,138-133=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=0.052 C2=0.069
Domain overlap (PFAM):
C1:
PF0009014=TSP_1=WD(100=87.9)
A:
PF0009014=TSP_1=WD(100=87.9)
C2:
PF0009014=TSP_1=WD(100=87.9),PF074747=G2F=PU(0.5=1.7)
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:
GTGCCAGACAGAGAACAAGGG
R:
CCTGAGTAGTGTCTCCGGGAC
Band lengths:
252-423
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains