Special

HsaEX0063773 @ hg38

Exon Skipping

Gene
ENSG00000132405 | TBC1D14
Description
TBC1 domain family member 14 [Source:HGNC Symbol;Acc:HGNC:29246]
Coordinates
chr4:6923373-6994302:+
Coord C1 exon
chr4:6923373-6924111
Coord A exon
chr4:6967304-6967424
Coord C2 exon
chr4:6994184-6994302
Length
121 bp
Sequences
Splice sites
3' ss Seq
TTGTTATTTTCTTCCTATAGGAA
3' ss Score
11.52
5' ss Seq
AAGGTACAC
5' ss Score
7.56
Exon sequences
Seq C1 exon
AACCCGGAGCCTGTACCCTGCAGCGCGGTCCACGTGAGGAGGAAGCAGTCCGACTCCGACCTCATCCCCGAGCGGGCCTTCCAGAGCGCCTGCGCGCTGCCATCCTGTGCGCCACCAGCTCCTAGCAGCACCGAGCGGGAACAGAGCGTGCGCAAATCCTCCACGTTTCCCAGGACAGGCTATGACTCGGTAAAGCTCTATAGCCCGACCTCCAAAGCCCTGACCCGCAGCGATGATGTCTCCGTCTGCAGCGTGTCCAGTCTTGGGACAGAGCTGTCCACCACGCTGTCCGTCAGCAATGAGGACATCTTGGACCTTGTGGTCACGAGCAGCTCCAGTGCCATTGTGACCCTGGAGAATGACGATGACCCACAGTTTACCAACGTCACCTTGAGCTCTATCAAGGAAACCCGTGGCTTACACCAGCAGGACTGTGTTCATGAAGCTGAGGAGGGGAGTAAATTGAAAATATTGGGGCCATTTAGTAACTTCTTTGCAAG
Seq A exon
GAACTTGCTTGCTAGAAAACAAAGTGCAAGGCTTGACAAACACAATGACTTGGGATGGAAGTTATTTGGGAAAGCGCCACTCCGAGAGAATGCCCAGAAGGATTCAAAGAGAATACAGAAG
Seq C2 exon
GAATATGAAGACAAGGCTGGAAGACCTAGCAAGCCACCCTCTCCAAAGCAGAATGTGAGGAAGAATCTTGACTTTGAACCACTTTCCACCACCGCACTCATCCTCGAGGACAGACCAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132405_MULTIEX1-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.451 A=0.351 C2=0.700
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000409757fB6939


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:
CTGTCCGTCAGCAATGAGGAC
R:
TGCTAGGTCTTCCAGCCTTGT
Band lengths:
246-367
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