HsaEX6035491 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186151200-186152871:+
Coord C1 exon
chr1:186151200-186151349
Coord A exon
chr1:186151606-186151743
Coord C2 exon
chr1:186152750-186152871
Length
138 bp
Sequences
Splice sites
3' ss Seq
TTATCCTTTTTTTTCTTTAGGTT
3' ss Score
12.93
5' ss Seq
CTGGTTAGT
5' ss Score
6.32
Exon sequences
Seq C1 exon
GTGGGCCCCAGCGAGCCAGAGGAAGTGTTATTGGAAATATTAATGATGTTGAATTTGGAATTGCTTTCCTTAATGCCACAATAACTGATAGCCCTAACTCTGATACTAGAATAATACGTGCCAAAATTACCAATGTACCTCGTAGTCTTG
Seq A exon
GTTCAGCAATGAGAAAGATAGTTTCTATTCTAAATCCCATTTATTGGACAACAGCAAAGGAAATAGGAGAAGCAGTCAATGGCTTTACCCTCACCAATGCAGTCTTCAAAAGAGAAACTCAAGTGGAATTTGCAACTG
Seq C2 exon
GAGAAATCTTGCAGATGAGTCATATTGCCCGGGGCTTGGATTCCGATGGTTCTTTGCTGCTAGATATCGTTGTGAGTGGCTATGTCCTACAGCTTCAGTCACCTGCTGAAGTCACTGTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'140-136,'140-135,141-136=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.039 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF074747=G2F=FE(26.6=100)
A:
PF074747=G2F=FE(24.5=100)
C2:
PF074747=G2F=FE(21.3=100)
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:
AGCGAGCCAGAGGAAGTGTTA
R:
CAGTGACTTCAGCAGGTGACT
Band lengths:
258-396
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains