HsaEX0024503 @ hg19
Exon Skipping
Gene
ENSG00000189319 | FAM53B
Description
family with sequence similarity 53, member B [Source:HGNC Symbol;Acc:28968]
Coordinates
chr10:126307861-126384781:-
Coord C1 exon
chr10:126384727-126384781
Coord A exon
chr10:126370176-126370948
Coord C2 exon
chr10:126307861-126312173
Length
773 bp
Sequences
Splice sites
3' ss Seq
CCTTGTCATTTATGAACCAGAAA
3' ss Score
4.77
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
CACACGCCAAAGAAGATGAGTCAAGGACCTACACTTTTCTCTTGTGGAATTATGG
Seq A exon
AAAATGACAGATGGCGAGACCTGGACAGGAAATGCCCTCTTCAGATTGACCAACCGAGCACCAGCATCTGGGAATGCCTGCCTGAAAAGGACAGCTCACTATGGCACCGGGAGGCAGTGACCGCCTGCGCTGTGACCAGTCTGATCAAAGACCTCAGCATCAGCGACCACAACGGGAACCCCTCAGCACCCCCTAGCAAGCGCCAGTGCCGCTCACTGTCCTTCTCCGATGAGATGTCCAGTTGCCGGACATCATGGAGGCCCTTGGGCTCCAAAGTCTGGACTCCCGTGGAAAAGAGACGCTGCTACAGCGGGGGCAGCGTCCAGCGCTATTCCAACGGCTTCAGCACCATGCAGAGGAGTTCCAGCTTCAGCCTCCCTTCCCGGGCCAACGTGCTCTCCTCACCCTGCGACCAGGCAGGACTCCACCACCGATTTGGAGGGCAGCCCTGCCAAGGGGTGCCAGGCTCAGCCCCGTGTGGACAGGCAGGTGACACCTGGAGCCCTGACCTGCACCCCGTGGGAGGAGGCCGGCTGGACCTGCAGCGGTCCCTCTCTTGCTCACATGAGCAGTTTTCCTTTGTGGAATACTGTCCTCCCTCAGCCAACAGCACACCTGCCTCAACACCAGAGCTGGCGAGACGCTCCAGCGGCCTTTCCCGCAGCCGCTCCCAGCCGTGTGTCCTTAACGACAAGAAGGTCGGTGTTAAAAGGCGGCGCCCTGAAGAAGTGCAAGAGCAGAGGCCTTCTCTAGACCTTGCCAAGATGGCACAG
Seq C2 exon
AACTGTCAGACCTTCAGCAGCCTCAGCTGCCTGAGCGCAGGGACAGAGGACTGCGGTCCCCAGAGCCCCTTCGCCCGCCACGTCAGCAACACCAGGGCCTGGACCGCCCTGCTCTCAGCCTCCGGCCCAGGGGGCAGGACCCCCGCTGGGACCCCGGTCCCTGAGCCTCTTCCCCCTTCCTTCGACGACCACCTCGCCTGCCAGGAGGACCTGTCCTGTGAGGAGTCAGACAGCTGCGCCCTGGACGAGGATTGTGGCAGGAGAGCGGAGCCGGCTGCAGCCTGGCGGGACCGCGGGGCCCCTGGGAACAGCCTCTGCTCCCTGGACGGCGAGTTGGACATTGAGCAGATAGAGAAGAACTGAGGGGGTGTGGGCCCAGGCAGGGCTGGGGTGTGCTGGCATCGACAGCCCCCACTCTGGGCACTAGGTGGGCCCTTGAAGGGGAGCCCAACTCGTGGGCCTGATGAAAGCTTCCTGAGTGGTGTCGGGTCCCAGAGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000189319-'8-15,'8-12,11-15
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.360 C2=0.442
Domain overlap (PFAM):
C1:
PF152421=FAM53=FE(31.0=100)
A:
PF152421=FAM53=FE(85.1=100)
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGACCTACACTTTTCTCTTGTGG
R:
CAGAGGCTGTTCCCAGGGG
Band lengths:
349-1122
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- 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)