HsaEX6035495 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186144173-186145573:+
Coord C1 exon
chr1:186144173-186144343
Coord A exon
chr1:186144533-186144703
Coord C2 exon
chr1:186145403-186145573
Length
171 bp
Sequences
Splice sites
3' ss Seq
ACCTTTTTCCCTTATTCCAGTTC
3' ss Score
9.97
5' ss Seq
CAAGTGAGT
5' ss Score
9.1
Exon sequences
Seq C1 exon
TTCATGGAGCATGGAGCGCTTGGCAGCCTTGGGGAACATGCAGCGAAAGTTGTGGGAAAGGTACTCAGACAAGAGCAAGACTTTGTAATAACCCACCACCAGCGTTTGGTGGGTCCTACTGTGATGGAGCAGAAACACAGATGCAAGTTTGCAATGAAAGAAATTGTCCAA
Seq A exon
TTCATGGCAAGTGGGCGACTTGGGCCAGTTGGAGTGCCTGTTCTGTGTCATGTGGAGGAGGTGCCAGACAGAGAACAAGGGGCTGCTCCGACCCTGTGCCCCAGTATGGAGGAAGGAAATGCGAAGGGAGTGATGTCCAGAGTGATTTTTGCAACAGTGACCCTTGCCCAA
Seq C2 exon
CCCATGGTAACTGGAGTCCTTGGAGTGGCTGGGGAACATGCAGCCGGACGTGTAACGGAGGGCAGATGCGGCGGTACCGCACATGTGATAACCCTCCTCCCTCCAATGGGGGAAGAGCTTGTGGGGGACCAGACTCCCAGATCCAGAGGTGCAACACTGACATGTGTCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'135-132,'135-131,136-132=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=0.000 C2=0.052
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:
ATGCAGCGAAAGTTGTGGGAA
R:
CACAAGCTCTTCCCCCATTGG
Band lengths:
257-428
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains