Special

HsaEX6101413 @ hg38

Exon Skipping

Gene
ENSG00000131183 | SLC34A1
Description
solute carrier family 34 member 1 [Source:HGNC Symbol;Acc:HGNC:11019]
Coordinates
chr5:177386221-177387873:+
Coord C1 exon
chr5:177386221-177386349
Coord A exon
chr5:177386423-177386566
Coord C2 exon
chr5:177387762-177387873
Length
144 bp
Sequences
Splice sites
3' ss Seq
CGCTGGCTCATGCTCCCCAGGGA
3' ss Score
6.71
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
Exon sequences
Seq C1 exon
AGTCCAGGCTGGTCCCCAAGCTGCGCCAGGCTGGCGCCATGCTGCTCAAGGTGCCACTGATGCTCACCTTCCTCTACCTCTTCGTCTGCTCCCTGGACATGCTCAGCTCGGCCTTCCAGCTGGCTGGAG
Seq A exon
GGAAGGTGGCTGGTGACATCTTCAAGGATAACGCCATCCTGTCCAACCCGGTGGCCGGGCTGGTGGTGGGGATCCTGGTGACCGTGCTGGTGCAGAGCTCCAGCACCTCCACATCCATCATCGTCAGCATGGTCTCCTCTGGCT
Seq C2 exon
TGCTGGAGGTGAGCTCTGCCATCCCCATCATCATGGGCTCCAACATCGGCACCTCTGTCACCAACACCATCGTGGCCCTGATGCAGGCGGGGGACAGGACTGACTTCCGGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000131183-'7-11,'7-9,8-11=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.012 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0269010=Na_Pi_cotrans=PU(11.8=38.6)
A:
PF0269010=Na_Pi_cotrans=FE(33.3=100)
C2:
PF0269010=Na_Pi_cotrans=FE(25.7=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:
TCCAGGCTGGTCCCCAAG
R:
GGAAGTCAGTCCTGTCCCCC
Band lengths:
235-379
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains