HsaEX6035486 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186178416-186188009:+
Coord C1 exon
chr1:186178416-186178766
Coord A exon
chr1:186182168-186182287
Coord C2 exon
chr1:186187883-186188009
Length
120 bp
Sequences
Splice sites
3' ss Seq
TCTGTCTTCTTCCTGAACAGATA
3' ss Score
10.8
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
Exon sequences
Seq C1 exon
ACATTAATGAATGTGAACAAGTGCCTAAACCTTGTGCACATCAGTGCTCCAACACCCCCGGCAGCTTCAAGTGTATCTGTCCACCAGGACAACATTTATTAGGGGACGGGAAATCTTGCGCTGGATTGGAGAGGCTGCCAAATTATGGCACTCAATACAGTAGCTATAACCTTGCACGGTTCTCCCCTGTGAGAAACAACTATCAACCTCAACAGCATTACAGACAGTACTCACATCTCTACAGCTCCTACTCAGAGTATAGAAACAGCAGAACATCTCTCTCCAGGACTAGAAGGACTATTAGGAAAACTTGCCCTGAAGGCTCTGAGGCAAGCCATGACACATGTGTAG
Seq A exon
ATATTGATGAATGTGAAAATACAGATGCCTGCCAGCATGAGTGTAAGAATACCTTTGGAAGTTATCAGTGCATCTGCCCACCTGGCTATCAACTCACACACAATGGAAAGACATGCCAAG
Seq C2 exon
ATATCGATGAATGTCTGGAGCAGAATGTGCACTGTGGACCCAATCGCATGTGCTTCAACATGAGAGGAAGCTACCAGTGCATCGATACACCCTGTCCACCCAACTACCAACGGGATCCTGTTTCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'241-154,'241-153,242-154=AN
Average complexity
A_C2
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:
PF0764510=EGF_CA=WD(100=33.9)
A:
PF126622=cEGF=PU(83.3=48.8)
C2:
PF126622=cEGF=PD(12.5=7.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACGGTTCTCCCCTGTGAGAAA
R:
TGCACTGGTAGCTTCCTCTCA
Band lengths:
257-377
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains