FRA11B
MCID: FRG018
MIFTS: 14

Fragile Site 11b (FRA11B)

Aliases & Classifications for Fragile Site 11b

MalaCards integrated aliases for Fragile Site 11b:

Name: Fragile Site 11b 57 6
Fra11b 57

External Ids:

OMIM® 57 600651

Summaries for Fragile Site 11b

MalaCards based summary : Fragile Site 11b, also known as fra11b, is related to jacobsen syndrome and juvenile myelomonocytic leukemia. An important gene associated with Fragile Site 11b is CBL (Cbl Proto-Oncogene). Affiliated tissues include heart.

More information from OMIM: 600651

Related Diseases for Fragile Site 11b

Diseases in the Fragile Site 11b family:

Fragile Site 9q32

Diseases related to Fragile Site 11b via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 jacobsen syndrome 11.1
2 juvenile myelomonocytic leukemia 10.9
3 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.9

Symptoms & Phenotypes for Fragile Site 11b

Clinical features from OMIM®:

600651 (Updated 20-May-2021)

Drugs & Therapeutics for Fragile Site 11b

Search Clinical Trials , NIH Clinical Center for Fragile Site 11b

Genetic Tests for Fragile Site 11b

Anatomical Context for Fragile Site 11b

MalaCards organs/tissues related to Fragile Site 11b:

40
Heart

Publications for Fragile Site 11b

Articles related to Fragile Site 11b:

(show all 23)
# Title Authors PMID Year
1
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. 61 57
7603564 1995
2
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 6
20619386 2010
3
Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization. 61
25298785 2014
4
Spontaneous expression of FRA16B in a non-consanguineous couple experiencing multiple fetal losses. 61
22564372 2012
5
Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. 61
22139980 2012
6
Jacobsen syndrome. 61
19267933 2009
7
Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics. 61
18564501 2008
8
Human chromosome fragility. 61
18078840 2008
9
Trinucleotide repeat dynamic mutation identifying susceptibility in familial and sporadic chronic lymphocytic leukaemia. 61
17116127 2007
10
Common fragile site FRA11G and rare fragile site FRA11B at 11q23.3 encompass distinct genomic regions. 61
17063465 2007
11
Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein. 61
15203205 2004
12
Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis. 61
11944976 2002
13
The clinical significance of fragile sites on human chromosomes. 61
11076037 2000
14
Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage. 61
10767345 2000
15
Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q. 61
9927483 1999
16
Chromosome duplications and deletions and their mechanisms of origin. 61
10449919 1999
17
Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. 61
9508241 1998
18
Unbalanced t(4;11)(q32;q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes. 61
9182774 1997
19
Identification of the gene FMR2, associated with FRAXE mental retardation. 61
8673085 1996
20
Clinical and molecular characterization of patients with distal 11q deletions. 61
7887422 1995
21
Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. 61
7881408 1994
22
Cytogenetic findings in acute leukaemias of infants. 61
1503922 1992
23
Further localization of ETS1 indicates that the chromosomal rearrangement in Ewing sarcoma does not occur at fra(11)(q23). 61
3422214 1988

Variations for Fragile Site 11b

ClinVar genetic disease variations for Fragile Site 11b:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CBL NM_005188.3(CBL):c.1100A>C (p.Gln367Pro) SNV Pathogenic 13807 rs267606704 GRCh37: 11:119148880-119148880
GRCh38: 11:119278170-119278170
2 CBL NM_005188.3(CBL):c.1144A>G (p.Lys382Glu) SNV Pathogenic 13808 rs267606705 GRCh37: 11:119148924-119148924
GRCh38: 11:119278214-119278214
3 CBL NM_005188.3(CBL):c.1168G>T (p.Asp390Tyr) SNV Pathogenic 13809 rs267606707 GRCh37: 11:119148948-119148948
GRCh38: 11:119278238-119278238
4 CBL NM_005188.3(CBL):c.1259G>A (p.Arg420Gln) SNV Pathogenic 13810 rs267606708 GRCh37: 11:119149251-119149251
GRCh38: 11:119278541-119278541
5 CBL NM_005188.4(CBL):c.1096-1G>T SNV not provided 180815 rs397517076 GRCh37: 11:119148875-119148875
GRCh38: 11:119278165-119278165

Expression for Fragile Site 11b

Search GEO for disease gene expression data for Fragile Site 11b.

Pathways for Fragile Site 11b

GO Terms for Fragile Site 11b

Sources for Fragile Site 11b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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