16p13.11 copy number variation syndrome (Homo sapiens)

From WikiPathways

Description

Quality Tags

Ontology Terms

Saving...

Bibliography

1. Wilkinson B, Evgrafov OV, Zheng D, Hartel N, Knowles JA, Graham NA, Ichida JK, Coba MP; ''Endogenous Cell Type-Specific Disrupted in Schizophrenia 1 Interactomes Reveal Protein Networks Associated With Neurodevelopmental Disorders.''; Biol Psychiatry, 2019 PubMed Europe PMC Scholia
2. Alkuraya FS, Cai X, Emery C, Mochida GH, Al-Dosari MS, Felie JM, Hill RS, Barry BJ, Partlow JN, Gascon GG, Kentab A, Jan M, Shaheen R, Feng Y, Walsh CA; ''Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].''; Am J Hum Genet, 2011 PubMed Europe PMC Scholia
3. Jones E, Hummerich H, Viré E, Uphill J, Dimitriadis A, Speedy H, Campbell T, Norsworthy P, Quinn L, Whitfield J, Linehan J, Jaunmuktane Z, Brandner S, Jat P, Nihat A, How Mok T, Ahmed P, Collins S, Stehmann C, Sarros S, Kovacs GG, Geschwind MD, Golubjatnikov A, Frontzek K, Budka H, Aguzzi A, Karamujić-Čomić H, van der Lee SJ, Ibrahim-Verbaas CA, van Duijn CM, Sikorska B, Golanska E, Liberski PP, Calero M, Calero O, Sanchez-Juan P, Salas A, Martinón-Torres F, Bouaziz-Amar E, Haïk S, Laplanche JL, Brandel JP, Amouyel P, Lambert JC, Parchi P, Bartoletti-Stella A, Capellari S, Poleggi A, Ladogana A, Pocchiari M, Aneli S, Matullo G, Knight R, Zafar S, Zerr I, Booth S, Coulthart MB, Jansen GH, Glisic K, Blevins J, Gambetti P, Safar J, Appleby B, Collinge J, Mead S; ''Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.''; Lancet Neurol, 2020 PubMed Europe PMC Scholia
4. Huttlin EL, Bruckner RJ, Navarrete-Perea J, Cannon JR, Baltier K, Gebreab F, Gygi MP, Thornock A, Zarraga G, Tam S, Szpyt J, Gassaway BM, Panov A, Parzen H, Fu S, Golbazi A, Maenpaa E, Stricker K, Guha Thakurta S, Zhang T, Rad R, Pan J, Nusinow DP, Paulo JA, Schweppe DK, Vaites LP, Harper JW, Gygi SP; ''Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.''; Cell, 2021 PubMed Europe PMC Scholia
5. Zhao Y, Oten S, Yildiz A; ''Nde1 promotes Lis1-mediated activation of dynein.''; Nat Commun, 2023 PubMed Europe PMC Scholia
6. Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K, Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G, Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP, Harper JW; ''Architecture of the human interactome defines protein communities and disease networks.''; Nature, 2017 PubMed Europe PMC Scholia
7. Hirotsune S, Fleck MW, Gambello MJ, Bix GJ, Chen A, Clark GD, Ledbetter DH, McBain CJ, Wynshaw-Boris A; ''Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality.''; Nat Genet, 1998 PubMed Europe PMC Scholia
8. Nishimura T, Fakim H, Brandmann T, Youn JY, Gingras AC, Jinek M, Fabian MR; ''Human MARF1 is an endoribonuclease that interacts with the DCP1:2 decapping complex and degrades target mRNAs.''; Nucleic Acids Res, 2018 PubMed Europe PMC Scholia
9. Bacchelli E, Blasi F, Biondolillo M, Lamb JA, Bonora E, Barnby G, Parr J, Beyer KS, Klauck SM, Poustka A, Bailey AJ, Monaco AP, Maestrini E; ''Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene.''; Mol Psychiatry, 2003 PubMed Europe PMC Scholia
10. Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG; ''The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.''; Am J Hum Genet, 2011 PubMed Europe PMC Scholia
11. Kavaslar GN, Onengüt S, Derman O, Kaya A, Tolun A; ''The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.''; Am J Hum Genet, 2000 PubMed Europe PMC Scholia
12. Shen M, Cai Y, Yang Y, Yan X, Liu X, Zhou T; ''Centrosomal protein FOR20 is essential for S-phase progression by recruiting Plk1 to centrosomes.''; Cell Res, 2013 PubMed Europe PMC Scholia
13. Ratajewski M, Van de Ven WJ, Bartosz G, Pulaski L; ''The human pseudoxanthoma elasticum gene ABCC6 is transcriptionally regulated by PLAG family transcription factors.''; Hum Genet, 2008 PubMed Europe PMC Scholia
14. Guarguaglini G, Duncan PI, Stierhof YD, Holmström T, Duensing S, Nigg EA; ''The forkhead-associated domain protein Cep170 interacts with Polo-like kinase 1 and serves as a marker for mature centrioles.''; Mol Biol Cell, 2005 PubMed Europe PMC Scholia
15. Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Wanamaker SA, Fan C, Yi S, Tasan M, Lemmens I, Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA, Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat J, Hill DE, Hao T, Vidal M, Iakoucheva LM; ''Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.''; Nat Commun, 2014 PubMed Europe PMC Scholia
16. Zhu L, Vranckx R, Khau Van Kien P, Lalande A, Boisset N, Mathieu F, Wegman M, Glancy L, Gasc JM, Brunotte F, Bruneval P, Wolf JE, Michel JB, Jeunemaitre X; ''Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.''; Nat Genet, 2006 PubMed Europe PMC Scholia
17. Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B; ''Identification of the gene for oral-facial-digital type I syndrome.''; Am J Hum Genet, 2001 PubMed Europe PMC Scholia
18. Guven A, Gunduz A, Bozoglu TM, Yalcinkaya C, Tolun A; ''Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.''; Neurogenetics, 2012 PubMed Europe PMC Scholia
19. Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF; ''A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.''; Eur J Hum Genet, 2015 PubMed Europe PMC Scholia
20. Dong W, Baldwin C, Choi J, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A; ''Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing.''; Clin Genet, 2019 PubMed Europe PMC Scholia
21. Urnavicius L, Zhang K, Diamant AG, Motz C, Schlager MA, Yu M, Patel NA, Robinson CV, Carter AP; ''The structure of the dynactin complex and its interaction with dynein.''; Science, 2015 PubMed Europe PMC Scholia
22. Wynshaw-Boris A, Gambello MJ; ''LIS1 and dynein motor function in neuronal migration and development.''; Genes Dev, 2001 PubMed Europe PMC Scholia
23. Kuang SQ, Guo DC, Prakash SK, McDonald ML, Johnson RJ, Wang M, Regalado ES, Russell L, Cao JM, Kwartler C, Fraivillig K, Coselli JS, Safi HJ, Estrera AL, Leal SM, LeMaire SA, Belmont JW, Milewicz DM; ''Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.''; PLoS Genet, 2011 PubMed Europe PMC Scholia
24. Abdel-Hamid MS, El-Dessouky SH, Ateya MI, Gaafar HM, Abdel-Salam GMH; ''Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly.''; Am J Med Genet A, 2019 PubMed Europe PMC Scholia
25. Hennah W, Tomppo L, Hiekkalinna T, Palo OM, Kilpinen H, Ekelund J, Tuulio-Henriksson A, Silander K, Partonen T, Paunio T, Terwilliger JD, Lönnqvist J, Peltonen L; ''Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1.''; Hum Mol Genet, 2007 PubMed Europe PMC Scholia
26. King SJ, Brown CL, Maier KC, Quintyne NJ, Schroer TA; ''Analysis of the dynein-dynactin interaction in vitro and in vivo.''; Mol Biol Cell, 2003 PubMed Europe PMC Scholia
27. Hodgkinson CA, Goldman D, Jaeger J, Persaud S, Kane JM, Lipsky RH, Malhotra AK; ''Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder.''; Am J Hum Genet, 2004 PubMed Europe PMC Scholia
28. Rolland T, Taşan M, Charloteaux B, Pevzner SJ, Zhong Q, Sahni N, Yi S, Lemmens I, Fontanillo C, Mosca R, Kamburov A, Ghiassian SD, Yang X, Ghamsari L, Balcha D, Begg BE, Braun P, Brehme M, Broly MP, Carvunis AR, Convery-Zupan D, Corominas R, Coulombe-Huntington J, Dann E, Dreze M, Dricot A, Fan C, Franzosa E, Gebreab F, Gutierrez BJ, Hardy MF, Jin M, Kang S, Kiros R, Lin GN, Luck K, MacWilliams A, Menche J, Murray RR, Palagi A, Poulin MM, Rambout X, Rasla J, Reichert P, Romero V, Ruyssinck E, Sahalie JM, Scholz A, Shah AA, Sharma A, Shen Y, Spirohn K, Tam S, Tejeda AO, Wanamaker SA, Twizere JC, Vega K, Walsh J, Cusick ME, Xia Y, Barabási AL, Iakoucheva LM, Aloy P, De Las Rivas J, Tavernier J, Calderwood MA, Hill DE, Hao T, Roth FP, Vidal M; ''A proteome-scale map of the human interactome network.''; Cell, 2014 PubMed Europe PMC Scholia
29. Li M, Mei L, He C, Chen H, Cai X, Liu Y, Tian R, Tian Q, Song J, Jiang L, Liu C, Wu H, Li T, Liu J, Li X, Yi Y, Yan D, Blanton SH, Hu Z, Liu X, Li J, Ling J, Feng Y; ''Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.''; Genet Med, 2019 PubMed Europe PMC Scholia
30. Macca M, Franco B; ''The molecular basis of oral-facial-digital syndrome, type 1.''; Am J Med Genet C Semin Med Genet, 2009 PubMed Europe PMC Scholia
31. Chevrier V, Bruel AL, Van Dam TJ, Franco B, Lo Scalzo M, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg JP, Kuentz P, Thevenon J, Burglen L, Faivre L, Rivière JB, Huynen MA, Birnbaum D, Rosnet O, Thauvin-Robinet C; ''OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.''; Hum Mol Genet, 2016 PubMed Europe PMC Scholia
32. Kawasaki H, Springett GM, Mochizuki N, Toki S, Nakaya M, Matsuda M, Housman DE, Graybiel AM; ''A family of cAMP-binding proteins that directly activate Rap1.''; Science, 1998 PubMed Europe PMC Scholia
33. Burdick KE, Kamiya A, Hodgkinson CA, Lencz T, DeRosse P, Ishizuka K, Elashvili S, Arai H, Goldman D, Sawa A, Malhotra AK; ''Elucidating the relationship between DISC1, NDEL1 and NDE1 and the risk for schizophrenia: evidence of epistasis and competitive binding.''; Hum Mol Genet, 2008 PubMed Europe PMC Scholia
34. Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H, Swart J, Kool M, van Soest S, Baas F, ten Brink JB, de Jong PT; ''Mutations in ABCC6 cause pseudoxanthoma elasticum.''; Nat Genet, 2000 PubMed Europe PMC Scholia
35. Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD; ''Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.''; Nat Genet, 2000 PubMed Europe PMC Scholia
36. Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J; ''Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.''; Proc Natl Acad Sci U S A, 2000 PubMed Europe PMC Scholia

History

External references

DataNodes

Name	Type	Database reference	Comment
ABCC1	GeneProduct	ENSG00000103222 (Ensembl)	Multidrug resistance-associated protein 1
ABCC6	GeneProduct	ENSG00000091262 (Ensembl)	Multidrug resistance-associated protein 6
ACTR10	GeneProduct	ENSG00000131966 (Ensembl)
ACTR1A	GeneProduct	ENSG00000138107 (Ensembl)
ACTR1B	GeneProduct	ENSG00000115073 (Ensembl)
BMERB1	GeneProduct	ENSG00000166780 (Ensembl)	bMERB domain-containing protein 1 [GeneCards]: Predicted to act upstream of or within negative regulation of cell motility involved in cerebral cortex radial glia guided migration and negative regulation of microtubule depolymerization. Predicted to be located in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
CEP170	GeneProduct	ENSG00000143702 (Ensembl)	Centrosomal Protein 170
CEP20	GeneProduct	ENSG00000133393 (Ensembl)	Centrosomal Protein 20 Other common annotations: FOR20; FOPNL
Ciliogenesis	Pathway
DCP1-DCP2 decapping complex
DCP1A	GeneProduct	ENSG00000272886 (Ensembl)
DCP2	GeneProduct	ENSG00000172795 (Ensembl)
DCTN1	GeneProduct	ENSG00000204843 (Ensembl)
DCTN4	GeneProduct	ENSG00000132912 (Ensembl)
DCTN6	GeneProduct	ENSG00000104671 (Ensembl)
DISC1	GeneProduct	ENSG00000162946 (Ensembl)	Disrupted In Schizophrenia 1 Protein
Dynactin protein complex
Dynein protein complex		CPX-5025 (Complex Portal)	Complex Portal: CPX-5025
ENSG00000257769	Rna	ENSG00000257769 (Ensembl)
ENSG00000261130	GeneProduct	ENSG00000261130 (Ensembl)
ENSG00000262171	Rna	ENSG00000262171 (Ensembl)
ENSG00000262380	Rna	ENSG00000262380 (Ensembl)
ENSG00000263065	Rna	ENSG00000263065 (Ensembl)
ENSG00000263335	Rna	ENSG00000263335 (Ensembl)
GATA3	GeneProduct	ENSG00000107485 (Ensembl)
KIAA0753-CEP20-OFD1
KIAA0753	GeneProduct	ENSG00000198920 (Ensembl)	OFD1- And FOPNL-Interacting Protein
MARF1	GeneProduct	ENSG00000166783 (Ensembl)
MIR484	Rna	ENSG00000272213 (Ensembl)
MYH11	GeneProduct	ENSG00000133392 (Ensembl)	smooth muscle myosin heavy chain (SMMHC) Type your comment here
NDE1	GeneProduct	ENSG00000072864 (Ensembl)	NudE Neurodevelopment Protein 1 Type your comment here
Neuronal migration	Pathway
OFD1	GeneProduct	ENSG00000046651 (Ensembl)
PAFAH1B1	GeneProduct	ENSG00000007168 (Ensembl)
PCM1	GeneProduct	ENSG00000078674 (Ensembl)	Pericentriolar Material 1 Protein
PLAG1	GeneProduct	ENSG00000181690 (Ensembl)
PLAGL1	GeneProduct	ENSG00000118495 (Ensembl)
PLK1	GeneProduct	ENSG00000166851 (Ensembl)	Ppolo-like kinase 1 - ser/thr kinase
RAP1A	GeneProduct	ENSG00000116473 (Ensembl)
RAPGEF4:cAMP
RAPGEF4	GeneProduct	ENSG00000091428 (Ensembl)	Rap guanine nucleotide exchange factor 4 synaptic plasticity, learning, and memory
RNU6-213P	Rna	ENSG00000206778 (Ensembl)
RPL15P20	GeneProduct	ENSG00000215003 (Ensembl)
RPL17P40	GeneProduct	ENSG00000241067 (Ensembl)
cAMP	Metabolite	CHEBI:17489 (ChEBI)
mRNA Degradation	Pathway

Annotated Interactions

No annotated interactions