HsaEX0024503 @ hg38
Exon Skipping
Gene
ENSG00000189319 | FAM53B
Description
family with sequence similarity 53 member B [Source:HGNC Symbol;Acc:HGNC:28968]
Coordinates
chr10:124667190-124696212:-
Coord C1 exon
chr10:124696158-124696212
Coord A exon
chr10:124681607-124682379
Coord C2 exon
chr10:124667190-124667420
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
ATAGCCCCATGAGGAAGGCACATCGTTATCCATTTTACAGGCGGTGGCTGAGTCTTAGAGGAAGCAGTCCAGTGAAACCAGAACTCAAGCCACATATATAATTTAAAATTCCTAGTAGCCAGTTATTAAGAGAAGAAAGTGAAATGACTTTGAATAGTATATTTAACCCAGTATTTCCAAAATACTATCATTTCCACATGTCATCGATGTAAGTAAATCATGAATGCACTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000189319-'3-4,'3-3,4-4=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.351 C2=0.667
Domain overlap (PFAM):
C1:
PF152421=FAM53=FE(23.1=100)
A:
PF152421=FAM53=FE(85.1=100)
C2:
NO
Main Skipping Isoform:
ENST00000280780fB2588
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACACGCCAAAGAAGATGAGTCA
R:
GTGCATTCATGATTTACTTACATCGA
Band lengths:
283-1056
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