1q21.1 copy number variation syndrome (Homo sapiens)

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1931, 2123, 6, 101611, 206, 181617tight junction proteinsAFDNF11ROCLNKIRREL1GJA3TJP3TJP1GJA1TJP2135524possibly involved in head circumfence developmentn-oxidation of diet-derivedamino-trimethylaminesa subunitsChromosome 1:146,527,987pseudo genePFN1P8NBPF13PRNU1-151PPRKAG1PRKAA1PRKAA2PDIA3P1CCT8P1NOTCH2RNVU1-29PRKAG2RNVU1-25N,N-dimethylanilineNOTCH2NLAPRKAB2PPIAL4HFMO5N,N-dimethylaniline N-oxideRPL7AP15PRKAG3AMPPRKAB1HYDIN29RNA5SP536SEC22B4PRNVU1-8NBPF12Fatty acid b-oxidation7Notch signalling(brain development)RNA geneneuroblastoma relatedunique in HomoPRKAB2b subunitsg subunitsAMPK5' AMP-activated protein kinase ADP238422154881421SchizophreniaBipolar disorderMajor depressive disorderChromosome 1:147,394,444Helicase activity - involved inany DNA relaxation process required for DNA replication, repair and transcriptionEnamel formationCHD1LGJA8DNAOR13Z3PAMELXColon cancerGJA5ACP61-(9Z-octadecenoyl)-sn-glycero-3-phosphateWNT signaling pathwayRN7SL261PLINC00624an alcoholPhosphateCTNNB1OR13Z2P1-(9Z-octadecenoyl)-sn-glycerolHeart developmentBase Excision RepairPYGO1OR13Z1PBCL9phosphate monoestersBCL9PYGO2PYGO1BCL9PYGO2Phosphate14gap junction proteins


Description

1q21.1 copy number variation (deletion or duplication) syndromes are known for a highly variable phenotype especially concerning psychiatric problems. The genes on the red DNA strand represents the deleted, or duplicated, region. The downstream effects and interaction partners of the different genes are shown according to available knowledge. The breakpoints (chr1:146,527,987-147,394,444, GRCh37/hg19) are defined as given in Kendall et al. 2017: http://dx.doi.org/10.1016/j.biopsych.2016.08.014.

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Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
134627view11:13, 23 July 2024EweitzAdd legend padding
134626view11:13, 23 July 2024EweitzOntology Term : 'chromosomal duplication syndrome' added !
134625view11:12, 23 July 2024EweitzOntology Term : 'chromosomal deletion syndrome' added !
134624view11:12, 23 July 2024EweitzMove legend to corner, economize layout
134623view11:11, 23 July 2024EweitzRefine legend
124898view15:24, 29 December 2022EgonwModified description
115772view13:37, 11 March 2021Fehrhartupdate to GRCh37
115766view12:31, 11 March 2021FehrhartModified description
115765view12:28, 11 March 2021Fehrhartcorrected break point positions
113763view15:21, 19 November 2020DeSlUpdated old HMDB IDs (second try)
113762view15:20, 19 November 2020DeSlUpdated old HMDB IDs
113701view08:30, 17 November 2020Fehrhartformat update for pathway node
110320view22:28, 3 May 2020Marvin M2Ontology Term : 'chromosome 1q21.1 duplication syndrome' added !
110319view22:28, 3 May 2020Marvin M2Ontology Term : 'chromosome 1q21.1 deletion syndrome' added !
110318view22:27, 3 May 2020Marvin M2Ontology Term : 'chromosomal disease' added !
110258view15:21, 30 April 2020EgonwReplaced secondary ChEBI identifiers with a primary identifiers.
110216view13:42, 24 April 2020Fehrhartfinalized addition of interactions
110191view15:13, 23 April 2020Fehrhartwork in progress
110190view15:06, 23 April 2020FehrhartOntology Term : 'bipolar disorder' added !
110189view15:05, 23 April 2020FehrhartOntology Term : 'major depressive disorder' added !
110188view15:05, 23 April 2020FehrhartOntology Term : 'schizophrenia' added !
110187view15:04, 23 April 2020FehrhartOntology Term : 'inborn error of metabolism pathway' added !
110186view15:04, 23 April 2020FehrhartOntology Term : 'congenital disease pathway' added !
110183view15:03, 23 April 2020Fehrhartwork in progress
110168view07:46, 23 April 2020FehrhartModified description
110167view07:46, 23 April 2020FehrhartModified description
110166view07:45, 23 April 2020FehrhartModified title
110164view15:46, 22 April 2020Fehrhartwork in progress
110163view15:21, 22 April 2020Fehrhartaddition of downstream known functions
110146view06:14, 21 April 2020FehrhartNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
1-(9Z-octadecenoyl)-sn-glycero-3-phosphateMetaboliteCHEBI:62837 (ChEBI)
1-(9Z-octadecenoyl)-sn-glycerolMetaboliteCHEBI:75757 (ChEBI)
ACP6GeneProductENSG00000162836 (Ensembl)
ADPMetaboliteCHEBI:16761 (ChEBI)
AFDNGeneProductENSG00000130396 (Ensembl)
AMELXGeneProductENSG00000125363 (Ensembl)
AMPMetaboliteCHEBI:16027 (ChEBI)
BCL9GeneProductENSG00000116128 (Ensembl)
Base Excision RepairPathwayWP1980 (WikiPathways)
CCT8P1GeneProductENSG00000226015 (Ensembl) pseudo gene
CHD1LGeneProductENSG00000131778 (Ensembl)
CTNNB1GeneProductENSG00000168036 (Ensembl)
Colon cancerPathwayWP4239 (WikiPathways)
DNAMetaboliteCHEBI:16991 (ChEBI)
F11RGeneProductENSG00000158769 (Ensembl) CD321
FMO5GeneProductENSG00000131781 (Ensembl)
Fatty acid b-oxidationPathwayWP368 (WikiPathways)
GJA1GeneProductENSG00000152661 (Ensembl)
GJA3GeneProductENSG00000121743 (Ensembl)
GJA5GeneProductENSG00000265107 (Ensembl) connexin 40 (Cx40)
GJA8GeneProductENSG00000121634 (Ensembl) connexin 50
HYDIN2GeneProductENSG00000276975 (Ensembl) origin known, but not function
Heart developmentPathwayWP1591 (WikiPathways)
KIRREL1GeneProductENSG00000183853 (Ensembl)
LINC00624RnaENSG00000278811 (Ensembl) ncRNA
N,N-dimethylaniline N-oxideMetaboliteCHEBI:17735 (ChEBI)
N,N-dimethylanilineMetaboliteCHEBI:16269 (ChEBI)
NBPF12GeneProductENSG00000268043 (Ensembl)
NBPF13PGeneProductENSG00000227242 (Ensembl) pseudo gene
NOTCH2GeneProductENSG00000134250 (Ensembl)
NOTCH2NLAGeneProductENSG00000264343 (Ensembl) N2N, notch 2 N-terminal like, notch 2 N-terminal like A, NOTCH2NL
Notch signalling (brain development)PathwayWP268 (WikiPathways)
OCLNGeneProductENSG00000197822 (Ensembl)
OR13Z1PGeneProductENSG00000226653 (Ensembl) pseudo gene
OR13Z2PGeneProductENSG00000272443 (Ensembl) pseudo gene
OR13Z3PGeneProductENSG00000272480 (Ensembl) pseudo gene
PDIA3P1GeneProductENSG00000180867 (Ensembl) pseudo gene
PFN1P8GeneProductENSG00000244371 (Ensembl) pseudo gene
PPIAL4HGeneProductENSG00000270339 (Ensembl) a peptidylprolyl isomerase - no concrete function known
PRKAA1GeneProductENSG00000132356 (Ensembl)
PRKAA2GeneProductENSG00000162409 (Ensembl)
PRKAB1GeneProductENSG00000111725 (Ensembl)
PRKAB2GeneProductENSG00000131791 (Ensembl) regulatory subunit
PRKAG1GeneProductENSG00000181929 (Ensembl)
PRKAG2GeneProductENSG00000106617 (Ensembl)
PRKAG3GeneProductENSG00000115592 (Ensembl)
PYGO1GeneProductENSG00000171016 (Ensembl)
PYGO2GeneProductENSG00000163348 (Ensembl)
PhosphateMetaboliteHMDB0001429 (HMDB)
RN7SL261PGeneProductENSG00000277762 (Ensembl) pseudo gene
RNA5SP536GeneProductENSG00000274408 (Ensembl) pseudogene
RNU1-151PGeneProductENSG00000201142 (Ensembl) pseudo gene
RNVU1-25GeneProductENSG00000274428 (Ensembl) snRNA
RNVU1-29RnaENSG00000273768 (Ensembl) snRNA
RNVU1-8RnaENSG00000286172 (Ensembl) snRNA
RPL7AP15GeneProductENSG00000236806 (Ensembl) pseudo gene
SEC22B4PGeneProductENSG00000277406 (Ensembl) pseudogene
TJP1GeneProductENSG00000104067 (Ensembl)
TJP2GeneProductENSG00000119139 (Ensembl)
TJP3GeneProductENSG00000105289 (Ensembl)
WNT signaling pathwayPathwayWP428 (WikiPathways)
an alcoholMetaboliteCHEBI:30879 (ChEBI)
phosphate monoestersMetaboliteCHEBI:7794 (ChEBI)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
1-(9Z-octadecenoyl)-sn-glycero-3-phosphate1-(9Z-octadecenoyl)-sn-glycerolmim-conversion39835 (Rhea)
1-(9Z-octadecenoyl)-sn-glycero-3-phosphatePhosphatemim-conversion39835 (Rhea)
N,N-dimethylanilineN,N-dimethylaniline N-oxidemim-conversion24468 (Rhea)
phosphate monoestersPhosphatemim-conversion15017 (Rhea)
phosphate monoestersan alcoholmim-conversion15017 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4905"
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