HsaEX0024501 @ hg19
Exon Skipping
Gene
ENSG00000189319 | FAM53B
Description
family with sequence similarity 53, member B [Source:HGNC Symbol;Acc:28968]
Coordinates
chr10:126370176-126384781:-
Coord C1 exon
chr10:126384727-126384781
Coord A exon
chr10:126383489-126383654
Coord C2 exon
chr10:126370176-126370948
Length
166 bp
Sequences
Splice sites
3' ss Seq
GTTTTGTTTTTCTTCTTCAGATA
3' ss Score
11.46
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
CACACGCCAAAGAAGATGAGTCAAGGACCTACACTTTTCTCTTGTGGAATTATGG
Seq A exon
ATACAGTTGCCATAGATGAGGTGATGTGTCAGATTGAGCACTGTGCCAGGCTCCTTACATGCTGGGCCCCGCTGGCTCTGCCAGTGGCATCATTCACATACGGGAGAACTGAGGTCTAGTGAGGTGGCCCTCTGCAAGGTCCCTCAGTAAGCGGAGTTGGACTCAG
Seq C2 exon
AAAATGACAGATGGCGAGACCTGGACAGGAAATGCCCTCTTCAGATTGACCAACCGAGCACCAGCATCTGGGAATGCCTGCCTGAAAAGGACAGCTCACTATGGCACCGGGAGGCAGTGACCGCCTGCGCTGTGACCAGTCTGATCAAAGACCTCAGCATCAGCGACCACAACGGGAACCCCTCAGCACCCCCTAGCAAGCGCCAGTGCCGCTCACTGTCCTTCTCCGATGAGATGTCCAGTTGCCGGACATCATGGAGGCCCTTGGGCTCCAAAGTCTGGACTCCCGTGGAAAAGAGACGCTGCTACAGCGGGGGCAGCGTCCAGCGCTATTCCAACGGCTTCAGCACCATGCAGAGGAGTTCCAGCTTCAGCCTCCCTTCCCGGGCCAACGTGCTCTCCTCACCCTGCGACCAGGCAGGACTCCACCACCGATTTGGAGGGCAGCCCTGCCAAGGGGTGCCAGGCTCAGCCCCGTGTGGACAGGCAGGTGACACCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000189319-'8-12,'8-10,9-12
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.360
Domain overlap (PFAM):
C1:
PF152421=FAM53=FE(31.0=100)
A:
PF152421=FAM53=PD(42.3=82.5)
C2:
PF152421=FAM53=FE(85.1=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
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:
ACACGCCAAAGAAGATGAGTCA
R:
CTTGCTAGGGGGTGCTGAGG
Band lengths:
254-420
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)