HsaEX0056147 @ hg38
Exon Skipping
Gene
ENSG00000167100 | SAMD14
Description
sterile alpha motif domain containing 14 [Source:HGNC Symbol;Acc:HGNC:27312]
Coordinates
chr17:50124917-50129822:-
Coord C1 exon
chr17:50129517-50129822
Coord A exon
chr17:50125091-50125360
Coord C2 exon
chr17:50124917-50124971
Length
270 bp
Sequences
Splice sites
3' ss Seq
ATCTCCATGACTTCTCCCAGATT
3' ss Score
4.97
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
CGCACACGCACACACACACGGAGCATCCTCCCGTCAGGTCTCCTGGTCCAGCCCCGCCCGCGCCTCCTGCTTCCAGCGAACCTGTTCCCTCTCCCCACATCCCCCGCCCTCCATCTCCCCCGGCTCTGGGACCCTTCCCGCCGACCTCACCCCCACCCCCGGGATGGAGCGGCTCGAGCCCGCCCGGAGCCCCCCGCGGCCGGGGTGACGGTCCCCCCACCCCTCTCCTGCCCGGCCCCCGCCTCGAGCACCATGGGCCTGAGGGGTTCCCGGGGCGCCAGACGCTGAAGATGACCGATGCCGGAG
Seq A exon
ATTTGATTGGACAGTTGATGATTGAAAGCTTTTAGGGGATGCTAATGATGCGAAGGCCCAAGACAGTGAAGGGGAGAAGTTCAGTGACCCACGTGAAGGCACACAGCAAATCAGTGGACCAGGATACCAGGACCACAGGGCTCAGCCTGTGTCTGTGCCTTGGTTTTGCGTCTGCCCCCACCCTCCTACTATACTGCCTGCCCCGGCGCCCACCATCTGGGTTATGATTCCAGTGGCTTCTCTTCCAGGGGACAGAAGAAGGGTTCTAAG
Seq C2 exon
CTCTCTTGAGTCATGGCTTCTTCAAAGCTCCGAGAACCCGTGGATGAAGTTTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167100_CASSETTE2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=0.933
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCCAGCGAACCTGTTCCC
R:
CAAAAACTTCATCCACGGGTTCT
Band lengths:
292-562
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development