2q13 copy number variation syndrome (WP5222)

Homo sapiens

The 2q13 copy number variation syndrome can result in the loss of up to 25 protein-coding genes. Patients with 2q13 deletions and duplications had abnormal head size and dysmorphic features (DOI: 10.1002/ajmg.a.37269). 2q13 duplications also caused developmental delay. The abnormal head size in 2q13 could be explained by the changes in FBLN7 gene (DOI: 10.1002/ajmg.a.37269). At the same time, neuropsychiatric impairment in 2q13 may be associated with BCL2L11, ANAPC1, SLC1A1 and MERTK alterations (DOI: 10.1002/ajmg.b.32236).


Daria Shumkova , Friederike Ehrhart , Eric Weitz , and Egon Willighagen


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Homo sapiens


Rare Diseases


Pathway Ontology

disease pathway

Disease Ontology

chromosomal deletion syndrome chromosomal duplication syndrome


Label Type Compact URI Comment
Pi Metabolite chebi:43474
GDP Metabolite chebi:17552
FAD Metabolite chebi:57692
Na+ Metabolite chebi:29101
proteins Metabolite chebi:36080
GTP Metabolite chebi:37565
RPL5P9 GeneProduct ensembl:ENSG00000236330
MIR4435-1HG GeneProduct ensembl:ENSG00000172965
RPS14P4 GeneProduct ensembl:ENSG00000226928
MIR4435-2 GeneProduct ensembl:ENSG00000266139
MIR4435-1 GeneProduct ensembl:ENSG00000266139
MIR4771-1 GeneProduct ensembl:ENSG00000266063
MIR4771-2 GeneProduct ensembl:ENSG00000266063
HMGN2P23 GeneProduct ensembl:ENSG00000236124
RNU6-1180P GeneProduct ensembl:ENSG00000201805
POLR2L GeneProduct ensembl:ENSG00000177700
IL36RN GeneProduct ensembl:ENSG00000136695
POLR2K GeneProduct ensembl:ENSG00000147669
NT5DC4 GeneProduct ensembl:ENSG00000144130
BCL2L11 GeneProduct ensembl:ENSG00000153094
IL1B GeneProduct ensembl:ENSG00000125538
MERTK GeneProduct ensembl:ENSG00000153208
CKAP2L GeneProduct ensembl:ENSG00000169607
TTL GeneProduct ensembl:ENSG00000114999
POLR1D GeneProduct ensembl:ENSG00000186184
IL1RN GeneProduct ensembl:ENSG00000136689
IL36G GeneProduct ensembl:ENSG00000136688
IL1F10 GeneProduct ensembl:ENSG00000136697
POLR1A GeneProduct ensembl:ENSG00000068654
POLR1B GeneProduct ensembl:ENSG00000125630
IL1A GeneProduct ensembl:ENSG00000115008
ANAPC1 GeneProduct ensembl:ENSG00000153107
ACOXL GeneProduct ensembl:ENSG00000153093
PSD4 GeneProduct ensembl:ENSG00000125637
POLR2H GeneProduct ensembl:ENSG00000163882
FBLN7 GeneProduct ensembl:ENSG00000144152
RN7SL297P GeneProduct ensembl:ENSG00000240183
POLR2F GeneProduct ensembl:ENSG00000100142
RGPD8 GeneProduct ensembl:ENSG00000169629
TMEM87B GeneProduct ensembl:ENSG00000153214
POLR1E GeneProduct ensembl:ENSG00000137054
CHCHD5 GeneProduct ensembl:ENSG00000125611
POLR1G GeneProduct ensembl:ENSG00000117877
IL36A GeneProduct ensembl:ENSG00000136694
POLR1C GeneProduct ensembl:ENSG00000171453
IL37 GeneProduct ensembl:ENSG00000125571
PLCG2 GeneProduct ensembl:ENSG00000197943
POLR2E GeneProduct ensembl:ENSG00000099817
POLR1H GeneProduct ensembl:ENSG00000066379
ZC3H6 GeneProduct ensembl:ENSG00000188177
ZC3H8 GeneProduct ensembl:ENSG00000144161
SLC20A1 GeneProduct ensembl:ENSG00000144136
IL36B GeneProduct ensembl:ENSG00000136696
STAT1 GeneProduct ensembl:ENSG00000115415
POLR1F GeneProduct ensembl:ENSG00000105849
IL36RN Protein ensembl:ENSG00000136695
SOCS3 Protein ensembl:ENSG00000184557
TULP1 Protein ensembl:ENSG00000112041
IL2 Protein ensembl:ENSG00000109471
CSF1 Protein ensembl:ENSG00000184371
IL23A Protein ensembl:ENSG00000110944
GATA3 Protein ensembl:ENSG00000107485
GRB2 Protein ensembl:ENSG00000177885
CXCL13 Protein ensembl:ENSG00000156234
PTK2 Protein ensembl:ENSG00000169398
GAS6 Protein ensembl:ENSG00000183087
IL1R1 Protein ensembl:ENSG00000115594
SOCS1 Protein ensembl:ENSG00000185338
LGALS3 Protein ensembl:ENSG00000131981
CSF2 Protein ensembl:ENSG00000164400
IL1RL2 Protein ensembl:ENSG00000115598
IL1RAP Protein ensembl:ENSG00000196083
SLC20A1 Protein ensembl:ENSG00000144136
MAPK1 Protein ensembl:ENSG00000100030
ARF6 Protein ensembl:ENSG00000165527
ACOXL Protein ensembl:ENSG00000153093
IL6 Protein ensembl:ENSG00000136244
ARL14 Protein ensembl:ENSG00000179674
RAC1 Protein ensembl:ENSG00000136238


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