1p36.33-p36.32 Copy Number Variation - CNVPathwayAtlas

1p36.33-p36.32 Copy Number Variation

Description

1p36.33-p36.32 deletion or duplication syndromes are a rare genetic disorders caused by a deletion or duplication of the most distal light band of the short arm of chromosome 1.

Genomic location GRCh37/hg19

Chr1:0-2500000

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Disorder Information from Orphanet

  1. ORPHA: 1606 Deletion syndrome
    616975, 607872
    Disease definition: A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency.
    World-wide prevalence: Unknown
    Very frequent (99–80%) phenotypic features: No phenotypic features available.
  2. ORPHA: 656279 Duplication syndrome
    618815
    Disease definition: No definition available.
    World-wide prevalence: Unknown
    Very frequent (99–80%) phenotypic features: No phenotypic features available.
  3. ORPHA: 96069 Distal duplication syndrome

    Disease definition: Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.
    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
OR4F5 olfactory receptor family 4 subfamily F member 5 79501 ENSG00000186092 Q8NH21
OR4F29 olfactory receptor family 4 subfamily F member 29 729759 ENSG00000284733 Q6IEY1
OR4F16 olfactory receptor family 4 subfamily F member 16 81399 ENSG00000284662 Q6IEY1
SAMD11 sterile alpha motif domain containing 11 148398 ENSG00000187634 Q96NU1
NOC2L NOC2 like nucleolar associated transcriptional repressor 26155 ENSG00000188976 Q9Y3T9
KLHL17 kelch like family member 17 339451 ENSG00000187961 Q6TDP4
PLEKHN1 pleckstrin homology domain containing N1 84069 ENSG00000187583 Q494U1
PERM1 PPARGC1 and ESRR induced regulator, muscle 1 84808 ENSG00000187642 Q5SV97
HES4 hes family bHLH transcription factor 4 57801 ENSG00000188290 Q9HCC6
ISG15 ISG15 ubiquitin like modifier 9636 ENSG00000187608 P05161
AGRN agrin 375790 ENSG00000188157 O00468
RNF223 ring finger protein 223 401934 ENSG00000237330 E7ERA6
C1orf159 chromosome 1 open reading frame 159 54991 ENSG00000131591 Q96HA4
TNFRSF18 TNF receptor superfamily member 18 8784 ENSG00000186891 Q9Y5U5
TNFRSF4 TNF receptor superfamily member 4 7293 ENSG00000186827 P43489
SDF4 stromal cell derived factor 4 51150 ENSG00000078808 Q9BRK5
B3GALT6 beta-1,3-galactosyltransferase 6 126792 ENSG00000176022 Q96L58
C1QTNF12 C1q and TNF related 12 388581 ENSG00000184163 Q5T7M4
UBE2J2 ubiquitin conjugating enzyme E2 J2 118424 ENSG00000160087 Q8N2K1
SCNN1D sodium channel epithelial 1 subunit delta 6339 ENSG00000162572 P51172
ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 116983 ENSG00000131584 Q96P50
PUSL1 pseudouridine synthase like 1 126789 ENSG00000169972 Q8N0Z8
INTS11 integrator complex subunit 11 54973 ENSG00000127054 Q5TA45
CPTP ceramide-1-phosphate transfer protein 80772 ENSG00000224051 Q5TA50
TAS1R3 taste 1 receptor member 3 83756 ENSG00000169962 Q7RTX0
DVL1 dishevelled segment polarity protein 1 1855 ENSG00000107404 O14640
MXRA8 matrix remodeling associated 8 54587 ENSG00000162576 Q9BRK3
AURKAIP1 aurora kinase A interacting protein 1 54998 ENSG00000175756 Q9NWT8
CCNL2 cyclin L2 81669 ENSG00000221978 Q96S94
MRPL20 mitochondrial ribosomal protein L20 55052 ENSG00000242485 Q9BYC9
ANKRD65 ankyrin repeat domain 65 441869 ENSG00000235098 E5RJM6
TMEM278 transmembrane protein 278 643965 ENSG00000205116 A6NKF7
VWA1 von Willebrand factor A domain containing 1 64856 ENSG00000179403 Q6PCB0
ATAD3C ATPase family AAA domain containing 3C 219293 ENSG00000215915 Q5T2N8
ATAD3B ATPase family AAA domain containing 3B 83858 ENSG00000160072 Q5T9A4
ATAD3A ATPase family AAA domain containing 3A 55210 ENSG00000197785 Q9NVI7
TMEM240 transmembrane protein 240 339453 ENSG00000205090 Q5SV17
SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase 29101 ENSG00000160075 Q9NP77
FNDC10 fibronectin type III domain containing 10 643988 ENSG00000228594 F2Z333
MIB2 MIB E3 ubiquitin protein ligase 2 142678 ENSG00000197530 Q96AX9
MMP23B matrix metallopeptidase 23B 8510 ENSG00000189409 O75900
CDK11B cyclin dependent kinase 11B 984 ENSG00000248333 P21127
SLC35E2B solute carrier family 35 member E2B 728661 ENSG00000189339 P0CK96
CDK11A cyclin dependent kinase 11A 728642 ENSG00000008128 Q9UQ88
NADK NAD kinase 65220 ENSG00000008130 O95544
GNB1 G protein subunit beta 1 2782 ENSG00000078369 P62873
CALML6 calmodulin like 6 163688 ENSG00000169885 Q8TD86
TMEM52 transmembrane protein 52 339456 ENSG00000178821 Q8NDY8
CFAP74 cilia and flagella associated protein 74 85452 ENSG00000142609 Q9C0B2
GABRD gamma-aminobutyric acid type A receptor subunit delta 2563 ENSG00000187730 O14764
PRKCZ protein kinase C zeta 5590 ENSG00000067606 Q05513
FAAP20 FA core complex associated protein 20 199990 ENSG00000162585 Q6NZ36
SKI SKI proto-oncogene 6497 ENSG00000157933 P12755
MORN1 MORN repeat containing 1 79906 ENSG00000116151 Q5T089
RER1 retention in endoplasmic reticulum sorting receptor 1 11079 ENSG00000157916 O15258
PEX10 peroxisomal biogenesis factor 10 5192 ENSG00000157911 O60683
PLCH2 phospholipase C eta 2 9651 ENSG00000149527 O75038
PANK4 pantothenate kinase 4 (inactive) 55229 ENSG00000157881 Q9NVE7
HES5 hes family bHLH transcription factor 5 388585 ENSG00000197921 Q5TA89
TNFRSF14 TNF receptor superfamily member 14 8764 ENSG00000157873 Q92956