HsaEX0024500 @ hg38
Exon Skipping
Gene
ENSG00000189319 | FAM53B
Description
family with sequence similarity 53 member B [Source:HGNC Symbol;Acc:HGNC:28968]
Coordinates
chr10:124681607-124706887:-
Coord C1 exon
chr10:124706636-124706887
Coord A exon
chr10:124696158-124696212
Coord C2 exon
chr10:124681607-124682379
Length
55 bp
Sequences
Splice sites
3' ss Seq
GCTTTTCTGGTTGTTTTCAGCAC
3' ss Score
8.99
5' ss Seq
TGGGTAAGT
5' ss Score
10.24
Exon sequences
Seq C1 exon
GGAGTTGACCACATTTGGCCATTTCCCAGAAGGGCCCCACCCCAAGGGTGAGTGGCCAATGGGGAGCTGTTTCTGCTGACATCAATTCCCCAGGAGGTACTCACCCCAAGTCTGCCCAAGTGAAGATGGCTGATACCCACCCTGGGATGGAGCCCAGCGCCTGAGGCCCTTATCATGGTGATGGTCCTAAGTGAAAGCCTCAGCACCCGGGGAGCTGACTCCATTGCATGTGGGACCTTCAGCCGTGAACTG
Seq A exon
CACACGCCAAAGAAGATGAGTCAAGGACCTACACTTTTCTCTTGTGGAATTATGG
Seq C2 exon
AAAATGACAGATGGCGAGACCTGGACAGGAAATGCCCTCTTCAGATTGACCAACCGAGCACCAGCATCTGGGAATGCCTGCCTGAAAAGGACAGCTCACTATGGCACCGGGAGGCAGTGACCGCCTGCGCTGTGACCAGTCTGATCAAAGACCTCAGCATCAGCGACCACAACGGGAACCCCTCAGCACCCCCTAGCAAGCGCCAGTGCCGCTCACTGTCCTTCTCCGATGAGATGTCCAGTTGCCGGACATCATGGAGGCCCTTGGGCTCCAAAGTCTGGACTCCCGTGGAAAAGAGACGCTGCTACAGCGGGGGCAGCGTCCAGCGCTATTCCAACGGCTTCAGCACCATGCAGAGGAGTTCCAGCTTCAGCCTCCCTTCCCGGGCCAACGTGCTCTCCTCACCCTGCGACCAGGCAGGACTCCACCACCGATTTGGAGGGCAGCCCTGCCAAGGGGTGCCAGGCTCAGCCCCGTGTGGACAGGCAGGTGACACCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000189319_MULTIEX1-2/4=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.351
Domain overlap (PFAM):
C1:
PF152421=FAM53=PU(32.1=96.2)
A:
PF152421=FAM53=FE(23.1=100)
C2:
PF152421=FAM53=FE(85.1=100)
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:
AGCTGACTCCATTGCATGTGG
R:
CTGTCCTTTTCAGGCAGGCAT
Band lengths:
134-189
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