Special

HsaEX6054825 @ hg38

Exon Skipping

Gene
ENSG00000033867 | SLC4A7
Description
solute carrier family 4 member 7 [Source:HGNC Symbol;Acc:HGNC:11033]
Coordinates
chr3:27403139-27409530:-
Coord C1 exon
chr3:27409356-27409530
Coord A exon
chr3:27404830-27404963
Coord C2 exon
chr3:27403139-27403384
Length
134 bp
Sequences
Splice sites
3' ss Seq
TTTCTTTTTTCCTTAAACAGAGT
3' ss Score
9.48
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
Exon sequences
Seq C1 exon
GCTTTTTGGTGGTTTGATACTTGACATCAAAAGGAAAGCACCTTTTTTCTTGAGTGACTTCAAGGATGCATTAAGCCTGCAGTGCCTGGCCTCGATTCTTTTCCTATACTGTGCCTGTATGTCTCCTGTAATCACTTTTGGAGGGCTGCTTGGAGAAGCTACAGAAGGCAGAATA
Seq A exon
AGTGCAATAGAGTCTCTTTTTGGAGCATCATTAACTGGGATTGCCTATTCATTGTTTGCTGGGCAACCTCTAACAATATTGGGGAGCACAGGTCCAGTTCTAGTGTTTGAAAAAATTTTATATAAATTCTGCAG
Seq C2 exon
AGATTATCAACTTTCTTATCTGTCTTTAAGAACCAGTATTGGTCTGTGGACTTCTTTTTTGTGCATTGTTTTGGTTGCAACAGATGCAAGCAGCCTTGTGTGTTATATTACTCGATTTACAGAAGAGGCTTTTGCAGCCCTTATTTGCATCATATTCATCTACGAGGCTTTGGAGAAGCTCTTTGATTTAGGAGAAACATATGCATTTAATATGCACAACAACTTAGATAAACTGACCAGCTACTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033867-'43-41,'43-40,48-41=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.015 C2=0.000
Domain overlap (PFAM):

C1:
PF0095516=HCO3_cotransp=FE(11.3=100)
A:
PF0095516=HCO3_cotransp=FE(22.0=100)
C2:
PF0095516=HCO3_cotransp=FE(15.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000425128fB26139


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:
TGCCTGGCCTCGATTCTTTTC
R:
TGCAAATAAGGGCTGCAAAAG
Band lengths:
242-376
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains