Special

HsaEX0024618 @ hg19

Exon Skipping

Gene
ENSG00000180488 | FAM73A
Description
family with sequence similarity 73, member A [Source:HGNC Symbol;Acc:24741]
Coordinates
chr1:78267016-78279552:+
Coord C1 exon
chr1:78267016-78267193
Coord A exon
chr1:78272660-78272786
Coord C2 exon
chr1:78279419-78279552
Length
127 bp
Sequences
Splice sites
3' ss Seq
TCTATCCATCTTAATTTTAGGTC
3' ss Score
9.86
5' ss Seq
TGGGTAGGA
5' ss Score
5.12
Exon sequences
Seq C1 exon
ATCAAATTTTCTCCGGTGGCTAAAAAGTTGTTTGTGGTAACTGCAGTGAGTGCTATATCTGTAATTTTTCTGGCTCATCACTTTAAAAGAAAACGTGGAAAGAAGAAAGGAAAAATATTACCATGGGAACCAGAGCACCTCATACTTGAATACACTAAAAGAGCAGCATCAGACAAAG
Seq A exon
GTCCAGAGTGTCAATTCTTGTCATAGCTGCGCTTGTGGCAATTCTAATTCCTGGGACAAAGCAGATGAAGATGATATTAAACTTGTTAATATTCCTGTGACTACTCCAGAGAACTTATACTTAATGG
Seq C2 exon
GTATGGAATTGTTTGAAGAGGCATTGCGTCGATGGGAACAAGCTCTGACCTTTCGCAATAGACAGGCTGAAGATGAAGCCTGTGGTTCCATTAAACTGGGTGCAGGAGATGCCATTGCTGAAGAAAATGTAGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000180488_MULTIEX1-2/3=C1-3
Average complexity
C2
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=0.000
Domain overlap (PFAM):

C1:
PF102654=DUF2217=PD(78.0=94.1)
A:
PF102654=DUF2217=FE(7.7=100)
C2:
PF102654=DUF2217=FE(8.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTCCGGTGGCTAAAAAGTTGT
R:
ACCACAGGCTTCATCTTCAGC
Band lengths:
255-382
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