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PR00826

Identifier
FANCONIAGENE  [View Relations]  [View Alignment]  
Accession
PR00826
No. of Motifs
7
Creation Date
17-FEB-1998  (UPDATE 03-JUL-1999)
Title
Fanconi anaemia group A protein signature
Database References
Literature References
1. STRATHDEE, C.A., GAVISH, H., SHANNON, W.R. AND BUCHWALD, M.
Cloning of cDNAs for Fanconi's anaemia by functional complementation.
NATURE 356 763-767 (1992).
 
2. GIBSON, R.A., BUCHWALD, M., ROBERTS, R.G. AND MATHEW, C.G.
Characterisation of the exon structure of the Fanconi anaemia group
C gene by vectorette PCR.
HUM.MOL.GENET. 2(1) 35-38 (1993).
 
3. WALSH, C.E., NIENHUIS, A.W., SAMULSKI, R.J., BROWN, M.G., MILLER, J.L.,
YOUNG, N.S. AND LIU, J.M. 
Phenotypic correction of Fanconi anemia in human hematopoietic cells
with a recombinant adeno-associated virus vector.
J.CLIN.INVEST. 94 1440-1448 (1994).
 
4. IANZANO, L., D'APOLITO, M., CENTRA, M., SAVINO, M., LEVRAN, O., 
AUERBACH, A.D., CLETON-JANSEN, A.M., DOGGETT, N.A., PRONK, J.C., 
TIPPING, A.J., GIBSON, R.A., MATHEW, C.G., WHITMORE, S.A., APOSTOLOU, S.,
CALLEN, F.C., ZELANTE, L. AND SAVOIA, A. 
The genomic organization of the Fanconi anemia group A (FAA) gene.
GENOMICS 41(3) 309-314 (1997). 

Documentation
Fanconi anaemia (FA) [1-3] is a recessive inherited disease characterised by
defective DNA repair. FA cells are sensitive to DNA cross-linking agents
that cause chromosomal instability and cell death. The disease is manifested
clinically by progressive pancytopenia, variable physical anomalies, and
predisposition to malignancy [3]. Four complementation groups have been
identified, designated A to D. The FA group A gene (FAA) has been
cloned [4], but its function remains to be elucidated. 
 
FANCONIAGENE is a 7-element fingerprint that provides a signature for
the Fanconi anaemia group A gene product. The fingerprint was derived 
from an initial alignment of 2 sequences: the motifs were drawn from
the C-terminal portion of the alignment, and include regions known to
contain disease-inducing mutation sites. A single iteration on OWL30.0
was required to reach convergence, no further sequences being identified
beyond the starting set.
 
An update on OWL31_3 identified a true set of 3 sequences.
Summary Information
3 codes involving  7 elements
0 codes involving 6 elements
0 codes involving 5 elements
0 codes involving 4 elements
0 codes involving 3 elements
0 codes involving 2 elements
Composite Feature Index
73333333
60000000
50000000
40000000
30000000
20000000
1234567
True Positives
AC005360      HSCH16FAA     HSZ83067      
Sequence Titles
AC005360    AC005360 NID: g3367514 - human.               
HSCH16FAA HSCH16FAA NID: g1657311 - human.
HSZ83067 HSZ83067 NID: g2230887 - human.
Scan History
OWL30_0    1  50   NSINGLE    
OWL31_3 2 10 NSINGLE
Initial Motifs
Motif 1  width=19
Element Seqn Id St Int Rpt
CEQFFHLVNSEMRNFCSHG HSZ83067 1105 1105 -
CEQFFHLVNSEMRNFCSHG HSCH16FAA 1105 1105 -

Motif 2 width=23
Element Seqn Id St Int Rpt
GGALTQDITAHFFRGLLNACLRS HSZ83067 1123 -1 -
GGALTQDITAHFFRGLLNACLRS HSCH16FAA 1123 -1 -

Motif 3 width=10
Element Seqn Id St Int Rpt
REENIRKQLK HSZ83067 1238 92 -
REENIRKQLK HSCH16FAA 1238 92 -

Motif 4 width=19
Element Seqn Id St Int Rpt
REELLVFLFFFSLMGLLSS HSZ83067 1253 5 -
REELLVFLFFFSLMGLLSS HSCH16FAA 1253 5 -

Motif 5 width=19
Element Seqn Id St Int Rpt
CLEKRKISWLALFQLTESD HSZ83067 1294 22 -
CLEKRKISWLALFQLTESD HSCH16FAA 1294 22 -

Motif 6 width=18
Element Seqn Id St Int Rpt
APDQHTRLLPFAFYSLLS HSZ83067 1323 10 -
APDQHTRLLPFAFYSLLS HSCH16FAA 1323 10 -

Motif 7 width=24
Element Seqn Id St Int Rpt
AAIREEAFLHVAVDMYLKLVQLFV HSZ83067 1346 5 -
AAIREEAFLHVAVDMYLKLVQLFV HSCH16FAA 1346 5 -
Final Motifs
Motif 1  width=19
Element Seqn Id St Int Rpt
CEQFFHLVNSEMRNFCSHG AC005360 496 496 -
CEQFFHLVNSEMRNFCSHG HSZ83067 1105 1105 -
CEQFFHLVNSEMRNFCSHG HSCH16FAA 1105 1105 -

Motif 2 width=23
Element Seqn Id St Int Rpt
GGALTQDITAHFFRGLLNACLRS AC005360 514 -1 -
GGALTQDITAHFFRGLLNACLRS HSZ83067 1123 -1 -
GGALTQDITAHFFRGLLNACLRS HSCH16FAA 1123 -1 -

Motif 3 width=10
Element Seqn Id St Int Rpt
REENIRKQLK AC005360 629 92 -
REENIRKQLK HSZ83067 1238 92 -
REENIRKQLK HSCH16FAA 1238 92 -

Motif 4 width=19
Element Seqn Id St Int Rpt
REELLVFLFFFSLMGLLSS AC005360 644 5 -
REELLVFLFFFSLMGLLSS HSZ83067 1253 5 -
REELLVFLFFFSLMGLLSS HSCH16FAA 1253 5 -

Motif 5 width=19
Element Seqn Id St Int Rpt
CLEKRKISWLALFQLTESD AC005360 685 22 -
CLEKRKISWLALFQLTESD HSZ83067 1294 22 -
CLEKRKISWLALFQLTESD HSCH16FAA 1294 22 -

Motif 6 width=18
Element Seqn Id St Int Rpt
APDQHTRLLPFAFYSLLS AC005360 714 10 -
APDQHTRLLPFAFYSLLS HSZ83067 1323 10 -
APDQHTRLLPFAFYSLLS HSCH16FAA 1323 10 -

Motif 7 width=24
Element Seqn Id St Int Rpt
AAIREEAFLHVAVDMYLKLVQLFV AC005360 737 5 -
AAIREEAFLHVAVDMYLKLVQLFV HSZ83067 1346 5 -
AAIREEAFLHVAVDMYLKLVQLFV HSCH16FAA 1346 5 -