HsaEX6035496 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186137802-186144703:+
Coord C1 exon
chr1:186137802-186137972
Coord A exon
chr1:186144173-186144343
Coord C2 exon
chr1:186144533-186144703
Length
171 bp
Sequences
Splice sites
3' ss Seq
GTCTTTTGGGGTGTTTGCAGTTC
3' ss Score
6.36
5' ss Seq
CAAGTAAGA
5' ss Score
7.61
Exon sequences
Seq C1 exon
TGGATGGTAGCTGGTCGGAATGGAGTCTTTGGGAAGAATGCACAAGGAGCTGTGGACGCGGCAACCAAACCAGGACCAGGACTTGCAATAATCCATCAGTTCAGCATGGTGGGCGGCCATGTGAAGGGAATGCTGTGGAAATAATTATGTGCAACATTAGGCCTTGCCCAG
Seq A exon
TTCATGGAGCATGGAGCGCTTGGCAGCCTTGGGGAACATGCAGCGAAAGTTGTGGGAAAGGTACTCAGACAAGAGCAAGACTTTGTAATAACCCACCACCAGCGTTTGGTGGGTCCTACTGTGATGGAGCAGAAACACAGATGCAAGTTTGCAATGAAAGAAATTGTCCAA
Seq C2 exon
TTCATGGCAAGTGGGCGACTTGGGCCAGTTGGAGTGCCTGTTCTGTGTCATGTGGAGGAGGTGCCAGACAGAGAACAAGGGGCTGCTCCGACCCTGTGCCCCAGTATGGAGGAAGGAAATGCGAAGGGAGTGATGTCCAGAGTGATTTTTGCAACAGTGACCCTTGCCCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'133-131,'133-130,135-131
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.034 A=0.000 C2=0.000
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)

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:
ATGGTAGCTGGTCGGAATGGA
R:
CCTTGTTCTCTGTCTGGCACC
Band lengths:
248-419
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains