WilliamsBeuren Syndrome Microdeletion

1
Williams-Beuren Syndrome Microdeletion
C-cen
A-cen
B-cen
C-mid
B-mid
A-mid
B-tel
A-tel
C-tel
WBSCR1/E1f4H
WBSCR5/LAB
GTF2IRD1
WBSCR21
WBSCR18
WBSCR22
WBSCR14
POM121
GTF2IRD2
BCL7B
BAZ1B
NOLR1
GTF2I
FKBP6
CYLN2
CLDN4
CLDN3
STX1A
LIMK1
NCF1
RFC2
TBL2
FZD9
ELN
1.5 Mb
7q11.23
Patient deletions


WBS
SVAS
Chr 7 155 Mb
2
WBS Workflows
Query nucleotide sequence
ncbiBlastWrapper
Pink Outputs/inputs of a service Purple
Taylor-made services Green Emboss soaplab
services Yellow Manchester soaplab services
Grey Unknowns
GenBank Accession No
URL inc GB identifier
Translation/sequence file. Good for records and
publications
prettyseq
GenBank Entry
Amino Acid translation
Sort for appropriate Sequences only
Identifies PEST seq
epestfind
6 ORFs
Seqret
Identifies FingerPRINTS
pscan
MW, length, charge, pI, etc
Nucleotide seq (Fasta)
pepstats
sixpack
ORFs
transeq
Predicts Coiled-coil regions
RepeatMasker
pepcoil
tblastn Vs nr, est, est_mouse, est_human
databases. Blastp Vs nr
GenScan
Coding sequence
ncbiBlastWrapper
Restriction enzyme map
restrict
SignalP TargetP PSORTII
Predicts cellular location
CpG Island locations and
cpgreport
InterPro PFAM Prosite Smart
Identifies functional and structural
domains/motifs
RepeatMasker
Repetative elements
Hydrophobic regions
Pepwindow? Octanol?
Blastn Vs nr, est databases.
ncbiBlastWrapper
3
Results from WBS Workflows
Extension 1
First extension Identified an overlapping BAC
(RP11-622P13) which significantly extended the
centromeric WBS Critical Region (WBSCR) contig,
reducing the gap by 121004bp. Of the six putative
coding regions predicted by the workflow, five
correspond exactly to the five known genes in
this region. Of the 34 exons known to reside in
this region, 31 were correctly identified.
Extension 2
The second extension BAC RP11-148M21 has a 200bp
overlap with BAC RP11-622P13 and so closed the
gap by a further 146689bp. The workflow
correctly identified the two gene known to reside
in this region, locating two out of two known
exons.
In summary, the workflows developed reduced the
gap by 267693bp at its centromeric end, correctly
located all seven known genes in this region and
identified 33 out of the 36 known exons residing
in this location.