22q11.21 Copy Number Variation - CNVPathwayAtlas

22q11.21 Copy Number Variation

Description

The 22q11.2 copy number variation syndrome can result in the loss or duplication of up to 46 protein-coding genes, which have wide-spread effects on human development. In case of deletion, the loss of TBX1 is thought to be responsible for a large proportion of the 22q11.2DS phenotype, due its role in the development of the heart, thymus, thyroid, parathyroids and more.

Genomic location GRCh37/hg19

Chr22:18912231-21465672

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Disorder Information from Orphanet

  1. ORPHA: 567 Deletion syndrome
    125520, 192430, 188400
    Disease definition: A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
    World-wide prevalence: 1-5 / 10 000
    Very frequent (99–80%) phenotypic features: No phenotypic features available.
  2. ORPHA: 1727 Duplication syndrome
    608363
    Disease definition: A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.
    World-wide prevalence: Unknown
    Very frequent (99–80%) phenotypic features: No phenotypic features available.

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Gene Information

HGNC Gene Name NCBI Ensembl UniProt
PRODH proline dehydrogenase 1 5625 ENSG00000100033 O43272
DGCR5 DiGeorge syndrome critical region gene 5 26220 ENSG00000273032
DGCR2 DiGeorge syndrome critical region gene 2 9993 ENSG00000070413 P98153
ESS2 ess-2 spliceosome associated protein 8220 ENSG00000100056 Q96DF8
TSSK2 testis specific serine kinase 2 23617 ENSG00000206203 Q96PF2
GSC2 goosecoid homeobox 2 2928 ENSG00000063515 O15499
SLC25A1 solute carrier family 25 member 1 6576 ENSG00000100075 P53007
CLTCL1 clathrin heavy chain like 1 8218 ENSG00000070371 P53675
HIRA histone cell cycle regulator 7290 ENSG00000100084 P54198
C22orf39 chromosome 22 open reading frame 39 128977 ENSG00000242259 Q6P5X5
MRPL40 mitochondrial ribosomal protein L40 64976 ENSG00000185608 Q9NQ50
UFD1 ubiquitin recognition factor in ER associated degradation 1 7353 ENSG00000070010 Q92890
CDC45 cell division cycle 45 8318 ENSG00000093009 O75419
CLDN5 claudin 5 7122 ENSG00000184113 O00501
SEPTIN5 septin 5 5413 ENSG00000184702 Q99719
GP1BB glycoprotein Ib platelet subunit beta 2812 ENSG00000203618 P13224
TBX1 T-box transcription factor 1 6899 ENSG00000184058 O43435
GNB1L G protein subunit beta 1 like 54584 ENSG00000185838 Q9BYB4
RTL10 retrotransposon Gag like 10 79680 ENSG00000215012 Q7L3V2
TXNRD2 thioredoxin reductase 2 10587 ENSG00000184470 Q9NNW7
COMT catechol-O-methyltransferase 1312 ENSG00000093010 P21964
ARVCF ARVCF delta catenin family member 421 ENSG00000099889 O00192
TANGO2 transport and golgi organization 2 homolog 128989 ENSG00000183597 Q6ICL3
DGCR8 DGCR8 microprocessor complex subunit 54487 ENSG00000128191 Q8WYQ5
TRMT2A tRNA methyltransferase 2A 27037 ENSG00000099899 Q8IZ69
RANBP1 RAN binding protein 1 5902 ENSG00000099901 P43487
ZDHHC8 zDHHC palmitoyltransferase 8 29801 ENSG00000099904 Q9ULC8
CCDC188 coiled-coil domain containing 188 388849 ENSG00000234409 H7C350
RTN4R reticulon 4 receptor 65078 ENSG00000040608 Q9BZR6
DGCR6L DiGeorge syndrome critical region gene 6 like 85359 ENSG00000128185 Q9BY27
FAM230G family with sequence similarity 230 member G 101927859 ENSG00000188280
USP41P ubiquitin specific peptidase 41, pseudogene 373856 ENSG00000161133
ZNF74 zinc finger protein 74 7625 ENSG00000185252 Q16587
SCARF2 scavenger receptor class F member 2 91179 ENSG00000244486 Q96GP6
KLHL22 kelch like family member 22 84861 ENSG00000099910 Q53GT1
MED15 mediator complex subunit 15 51586 ENSG00000099917 Q96RN5
PI4KA phosphatidylinositol 4-kinase alpha 5297 ENSG00000241973 P42356
SERPIND1 serpin family D member 1 3053 ENSG00000099937 P05546
SNAP29 synaptosome associated protein 29 9342 ENSG00000099940 O95721
CRKL CRK like proto-oncogene, adaptor protein 1399 ENSG00000099942 P46109
AIFM3 AIF family member 3 150209 ENSG00000183773 Q96NN9
LZTR1 leucine zipper like post translational regulator 1 8216 ENSG00000099949 Q8N653
THAP7 THAP domain containing 7 80764 ENSG00000184436 Q9BT49
P2RX6 purinergic receptor P2X 6 9127 ENSG00000099957 O15547
SLC7A4 solute carrier family 7 member 4 6545 ENSG00000099960 O43246
LRRC74B leucine rich repeat containing 74B 400891 ENSG00000187905 Q6ZQY2