Special

HsaEX6032162 @ hg19

Exon Skipping

Gene
ENSG00000137942 | FNBP1L
Description
formin binding protein 1-like [Source:HGNC Symbol;Acc:20851]
Coordinates
chr1:94009664-94012998:+
Coord C1 exon
chr1:94009664-94009773
Coord A exon
chr1:94012399-94012531
Coord C2 exon
chr1:94012904-94012998
Length
133 bp
Sequences
Splice sites
3' ss Seq
GGGTTCCTTCTCTTTTTTAGAGA
3' ss Score
9.05
5' ss Seq
GAGGTAGAT
5' ss Score
6.04
Exon sequences
Seq C1 exon
GGCCCAGCACTAGAAGATTTCAGTCATCTGCCACCAGAACAGAGACGTAAAAAACTACAGCAGCGCATTGATGAACTTAACAGAGAACTACAGAAAGAATCAGACCAAAA
Seq A exon
AGATGCACTCAACAAAATGAAAGATGTATATGAGAAGAATCCACAAATGGGGGATCCAGGGAGTTTGCAGCCTAAATTAGCAGAGACCATGAATAACATTGACCGCCTACGAATGGAAATCCATAAGAATGAG
Seq C2 exon
GCTTGGCTCTCTGAAGTCGAAGGCAAAACAGGTGGGAGAGGAGACAGAAGACATAGCAGTGACATAAATCATCTTGTAACACAGGGACGAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137942-'14-16,'14-15,15-16=AN
Average complexity
A_S
Mappability confidence:
88%=75=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.954 A=0.933 C2=1.000
Domain overlap (PFAM):

C1:
PF127872=EcsC=FE(27.5=100),PF103924=COG5=PU(36.8=86.5),PF143891=Lzipper-MIP1=PU(34.1=78.4),PF154561=Uds1=PU(36.8=86.5),PF0218511=HR1=PU(25.0=43.2)
A:
PF127872=EcsC=FE(33.6=100),PF103924=COG5=FE(50.6=100),PF143891=Lzipper-MIP1=FE(51.8=100),PF154561=Uds1=FE(50.6=100),PF0218511=HR1=FE(68.8=100)
C2:
PF127872=EcsC=PD(19.8=81.2),PF103924=COG5=PD(10.3=28.1),PF143891=Lzipper-MIP1=PD(11.8=31.2),PF154561=Uds1=PD(10.3=28.1),PF0218511=HR1=PD(3.1=6.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
GGCCCAGCACTAGAAGATTTCA
R:
TCTCGTCCCTGTGTTACAAGA
Band lengths:
202-335
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains