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![]() Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | (+)-schisandrin B | multiple interactions | ISO | RGD:1359227 | 6480464 | schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of YDJC mRNA] | CTD | PMID:31150632 | 1,2-dimethylhydrazine | multiple interactions | ISO | RGD:1359227 | 6480464 | [APC protein affects the susceptibility to 1, 2-Dimethylhydrazine] which results in increased expression of YDJC mRNA | CTD | PMID:27840820 | 17alpha-ethynylestradiol | decreases expression | ISO | RGD:1359227 | 6480464 | Ethinyl Estradiol results in decreased expression of YDJC mRNA | CTD | PMID:17557909 | 2,3,7,8-tetrachlorodibenzodioxine | affects expression | ISO | RGD:1359227 | 6480464 | Tetrachlorodibenzodioxin affects the expression of YDJC mRNA | CTD | PMID:22298810 | 3-chloropropane-1,2-diol | decreases expression | ISO | RGD:1359227 | 6480464 | alpha-Chlorohydrin results in decreased expression of YDJC mRNA | CTD | PMID:28522335 | 3-isobutyl-1-methyl-7H-xanthine | multiple interactions | EXP | | 6480464 | [INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of YDJC mRNA | CTD | PMID:28628672 | acrylamide | increases expression | ISO | RGD:1359227 | 6480464 | Acrylamide results in increased expression of YDJC mRNA | CTD | PMID:28959563 | antirheumatic drug | decreases expression | EXP | | 6480464 | Antirheumatic Agents results in decreased expression of YDJC mRNA | CTD | PMID:24449571 | atrazine | decreases expression | EXP | | 6480464 | Atrazine results in decreased expression of YDJC mRNA | CTD | PMID:22378314 | benzo[a]pyrene | decreases expression | ISO | RGD:1551061 | 6480464 | Benzo(a)pyrene results in decreased expression of YDJC mRNA | CTD | PMID:27195522 | bisphenol A | decreases expression | ISO | RGD:1359227 | 6480464 | bisphenol A results in decreased expression of YDJC mRNA | CTD | PMID:25181051 | bisphenol A | multiple interactions | EXP | | 6480464 | [INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of YDJC mRNA | CTD | PMID:28628672 | copper atom | multiple interactions | EXP | | 6480464 | [NSC 689534 binds to Copper] which results in decreased expression of YDJC mRNA | CTD | PMID:20971185 | copper(0) | multiple interactions | EXP | | 6480464 | [NSC 689534 binds to Copper] which results in decreased expression of YDJC mRNA | CTD | PMID:20971185 | cyclosporin A | increases expression | EXP | | 6480464 | Cyclosporine results in increased expression of YDJC mRNA | CTD | PMID:20106945 | decabromodiphenyl ether | increases expression | ISO | RGD:1359227 | 6480464 | decabromobiphenyl ether results in increased expression of YDJC mRNA | CTD | PMID:23640034 | dexamethasone | multiple interactions | EXP | | 6480464 | [INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of YDJC mRNA | CTD | PMID:28628672 | dibutyl phthalate | decreases expression | ISO | RGD:1359227 | 6480464 | Dibutyl Phthalate results in decreased expression of YDJC mRNA | CTD | PMID:21266533 | dibutyl phthalate | decreases expression | ISO | RGD:1551061 | 6480464 | Dibutyl Phthalate results in decreased expression of YDJC mRNA | CTD | PMID:21266533 | doxorubicin | decreases expression | EXP | | 6480464 | Doxorubicin results in decreased expression of YDJC mRNA | CTD | PMID:29803840 | furan | increases expression | ISO | RGD:1359227 | 6480464 | furan results in increased expression of YDJC mRNA | CTD | PMID:26194646 | indometacin | multiple interactions | EXP | | 6480464 | [INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of YDJC mRNA | CTD | PMID:28628672 | methotrexate | decreases expression | EXP | | 6480464 | Methotrexate results in decreased expression of YDJC mRNA | CTD | PMID:24449571 | sodium arsenite | increases expression | EXP | | 6480464 | sodium arsenite results in increased expression of YDJC mRNA | CTD | PMID:22714537 | Soman | decreases expression | ISO | RGD:1359227 | 6480464 | Soman results in decreased expression of YDJC mRNA | CTD | PMID:19281266 | tetrachloromethane | increases expression | ISO | RGD:1359227 | 6480464 | Carbon Tetrachloride results in increased expression of YDJC mRNA | CTD | PMID:31150632 | tetrachloromethane | multiple interactions | ISO | RGD:1359227 | 6480464 | schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of YDJC mRNA] | CTD | PMID:31150632 | titanium dioxide | decreases expression | ISO | RGD:1359227 | 6480464 | titanium dioxide results in decreased expression of YDJC mRNA | CTD | PMID:30012374 | trimellitic anhydride | increases expression | ISO | RGD:1551061 | 6480464 | trimellitic anhydride results in increased expression of YDJC mRNA | CTD | PMID:19042947 | urethane | decreases expression | EXP | | 6480464 | Urethane results in decreased expression of YDJC mRNA | CTD | PMID:28818685 | valproic acid | decreases expression | EXP | | 6480464 | Valproic Acid results in decreased expression of YDJC mRNA | CTD | PMID:29154799 | valproic acid | increases methylation | EXP | | 6480464 | Valproic Acid results in increased methylation of YDJC gene | CTD | PMID:29154799 | |
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1. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | RGD automated import pipeline for gene-chemical interactions |
PubMed | 12477932 18177738 20190752 21102463 21383967 21873635 22658674 23128233 23222517 24390342 26186194 28514442 |
YDJC (Homo sapiens - human) |
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Ydjc (Mus musculus - house mouse) |
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Ydjc (Rattus norvegicus - Norway rat) |
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Ydjc (Chinchilla lanigera - long-tailed chinchilla) |
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YDJC (Pan paniscus - bonobo/pygmy chimpanzee) |
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YDJC (Canis lupus familiaris - dog) |
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Ydjc (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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YDJC (Sus scrofa - pig) |
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RH94069 |
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The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RefSeq Transcripts | NM_001017964 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001371350 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_163922 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_163923 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_163924 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_163925 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AP000553 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
BC017281 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC053663 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC057814 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC096754 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC110075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC110799 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC133043 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC133047 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG105883 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI199854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI597711 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM048037 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ050386 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001017964 ⟹ NP_001017964 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
ACTCCCCTGGGAGCGCGAGCGGTGGACCCAGGCGGCCATGTCCCGCCCTCGCATGCGCCTGGTGhide sequence |
RefSeq Acc Id: | NM_001371350 ⟹ NP_001358279 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_163922 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_163923 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_163924 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_163925 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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Protein RefSeqs | NP_001017964 | (Get FASTA) | NCBI Sequence Viewer |
NP_001358279 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | A8MPS7 | (Get FASTA) | NCBI Sequence Viewer |
AAI10076 | (Get FASTA) | NCBI Sequence Viewer | |
AAI33044 | (Get FASTA) | NCBI Sequence Viewer | |
AAI33048 | (Get FASTA) | NCBI Sequence Viewer | |
EAW59461 | (Get FASTA) | NCBI Sequence Viewer | |
EAW59462 | (Get FASTA) | NCBI Sequence Viewer | |
EAW59463 | (Get FASTA) | NCBI Sequence Viewer | |
EAW59464 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001017964 ⟸ NM_001017964 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A8MPS7 (UniProtKB/Swiss-Prot) |
- Sequence: |
MSRPRMRLVVTADDFGYCPRRDEGIVEAFLAGAVTSVSLLVNGAATESAAELARRHSIPTGLHAhide sequence |
RefSeq Acc Id: | NP_001358279 ⟸ NM_001371350 |
- Peptide Label: | isoform 2 |
RGD ID: | 6800065 | |||||||||
Promoter ID: | HG_KWN:41769 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
Transcripts: | OTTHUMT00000320213, OTTHUMT00000320214, OTTHUMT00000320215, OTTHUMT00000320216, OTTHUMT00000320217, OTTHUMT00000320218, UC002ZVD.1 | |||||||||
Position: |
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RGD ID: | 13603322 | |||||||||
Promoter ID: | EPDNEW_H27845 | |||||||||
Type: | initiation region | |||||||||
Name: | YDJC_1 | |||||||||
Description: | YdjC chitooligosaccharide deacetylase homolog | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3 | copy number gain | Poor coordination [RCV000050932]|See cases [RCV000050932] | Chr22:20671366..22046408 [GRCh38] Chr22:21025654..22400806 [GRCh37] Chr22:19355654..20730806 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 | copy number gain | Cholesteatoma [RCV000050768]|See cases [RCV000050768] | Chr22:18178957..31821193 [GRCh38] Chr22:18661724..32217179 [GRCh37] Chr22:17041724..30547179 [NCBI36] Chr22:22q11.21-12.3 |
pathogenic |
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22562663)x1 | copy number loss | Global developmental delay [RCV000051017]|See cases [RCV000051017] | Chr22:21151069..22562663 [GRCh38] Chr22:21505358..22905068 [GRCh37] Chr22:19835358..21235068 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh38/hg38 22q11.21-11.22(chr22:21603122-22562663)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051147]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051147]|See cases [RCV000051147] | Chr22:21603122..22562663 [GRCh38] Chr22:21957411..22905068 [GRCh37] Chr22:20287411..21235068 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3 | copy number gain | Hypertelorism [RCV000051961]|See cases [RCV000051961] | Chr22:20668552..22358488 [GRCh38] Chr22:21022840..22712836 [GRCh37] Chr22:19352840..21042836 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053082]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053082]|See cases [RCV000053082] | Chr22:21454661..22562663 [GRCh38] Chr22:21808950..22905068 [GRCh37] Chr22:20138950..21235068 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|See cases [RCV000053084] | Chr22:21454661..24197852 [GRCh38] Chr22:21808950..24593820 [GRCh37] Chr22:20138950..22923820 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23301036)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|See cases [RCV000053085] | Chr22:21454661..23301036 [GRCh38] Chr22:21808950..23643223 [GRCh37] Chr22:20138950..21973223 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 | copy number loss | Nonsyndromic microcephaly [RCV000053087]|See cases [RCV000053087] | Chr22:21457690..24220231 [GRCh38] Chr22:21811979..24616199 [GRCh37] Chr22:20141979..22946199 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1 | copy number loss | Global developmental delay [RCV000053090]|See cases [RCV000053090] | Chr22:21562911..24307688 [GRCh38] Chr22:21917200..24703656 [GRCh37] Chr22:20247200..23033656 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053104]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053104]|See cases [RCV000053104] | Chr22:16916608..24358936 [GRCh38] Chr22:17397498..24754904 [GRCh37] Chr22:15777498..23084904 [NCBI36] Chr22:22q11.1-11.23 |
pathogenic |
GRCh38/hg38 22q11.21-11.22(chr22:21623411-22617259)x1 | copy number loss | Muscular hypotonia [RCV000053107]|See cases [RCV000053107] | Chr22:21623411..22617259 [GRCh38] Chr22:21977700..22959729 [GRCh37] Chr22:20307700..21289729 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1 | copy number loss | Hydronephrosis [RCV000053108]|See cases [RCV000053108] | Chr22:21623411..23315617 [GRCh38] Chr22:21977700..23657804 [GRCh37] Chr22:20307700..21987804 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|See cases [RCV000053061] | Chr22:20726772..23135971 [GRCh38] Chr22:21081060..23478158 [GRCh37] Chr22:19411060..21808158 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.21-11.22(chr22:21150869-22562804)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|See cases [RCV000053157] | Chr22:21150869..22562804 [GRCh38] Chr22:21505158..22905209 [GRCh37] Chr22:19835158..21235209 [NCBI36] Chr22:22q11.21-11.22 |
uncertain significance |
GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3 | copy number gain | Macrocephaly [RCV000053158]|See cases [RCV000053158] | Chr22:21386914..23305976 [GRCh38] Chr22:21741203..23648163 [GRCh37] Chr22:20071203..21978163 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic|uncertain significance |
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053159]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053159]|See cases [RCV000053159] | Chr22:21454661..23414686 [GRCh38] Chr22:21808950..23756873 [GRCh37] Chr22:20138950..22086873 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic|uncertain significance|conflicting data from submitters |
GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3 | copy number gain | Hirschsprung's disease [RCV000053160]|See cases [RCV000053160] | Chr22:21623411..22651271 [GRCh38] Chr22:21977700..22993741 [GRCh37] Chr22:20307700..21323741 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic|uncertain significance |
GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053074]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053074]|See cases [RCV000053074] | Chr22:21443815..24235645 [GRCh38] Chr22:21798104..24631613 [GRCh37] Chr22:20128104..22961613 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053075]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053075]|See cases [RCV000053075] | Chr22:21443815..23397298 [GRCh38] Chr22:21798104..23739485 [GRCh37] Chr22:20128104..22069485 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1 | copy number loss | Abnormality of the heart [RCV000053077]|See cases [RCV000053077] | Chr22:21454461..24247296 [GRCh38] Chr22:21808750..24643264 [GRCh37] Chr22:20138750..22973264 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|See cases [RCV000053079] | Chr22:21454661..24289119 [GRCh38] Chr22:21808950..24685087 [GRCh37] Chr22:20138950..23015087 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 | copy number gain | See cases [RCV000133646] | Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 | copy number gain | See cases [RCV000134730] | Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
GRCh38/hg38 22q11.21-11.22(chr22:21583391-21832041)x3 | copy number gain | See cases [RCV000134516] | Chr22:21583391..21832041 [GRCh38] Chr22:21937680..22186330 [GRCh37] Chr22:20267680..20516330 [NCBI36] Chr22:22q11.21-11.22 |
uncertain significance |
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3 | copy number gain | See cases [RCV000134888] | Chr22:20671366..22088366 [GRCh38] Chr22:21025654..22442778 [GRCh37] Chr22:19355654..20772778 [NCBI36] Chr22:22q11.21-11.22 |
uncertain significance |
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1 | copy number loss | See cases [RCV000135739] | Chr22:21454661..23414686 [GRCh38] Chr22:21808950..23756873 [GRCh37] Chr22:20138950..22086873 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x3 | copy number gain | See cases [RCV000136016] | Chr22:21454649..22562620 [GRCh38] Chr22:21808938..22905025 [GRCh37] Chr22:20138938..21235025 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic|uncertain significance |
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x1 | copy number loss | See cases [RCV000136017] | Chr22:21454649..22562620 [GRCh38] Chr22:21808938..22905025 [GRCh37] Chr22:20138938..21235025 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 | copy number loss | See cases [RCV000136889] | Chr22:20726972..24197852 [GRCh38] Chr22:21081260..24593820 [GRCh37] Chr22:19411260..22923820 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.21-11.22(chr22:21444416-22574173)x1 | copy number loss | See cases [RCV000136776] | Chr22:21444416..22574173 [GRCh38] Chr22:21798705..22916612 [GRCh37] Chr22:20128705..21246612 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1 | copy number loss | See cases [RCV000137685] | Chr22:21454661..24247140 [GRCh38] Chr22:21808950..24643108 [GRCh37] Chr22:20138950..22973108 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3 | copy number gain | See cases [RCV000137493] | Chr22:21151069..22617194 [GRCh38] Chr22:21505358..22959664 [GRCh37] Chr22:19835358..21289664 [NCBI36] Chr22:22q11.21-11.22 |
uncertain significance |
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1 | copy number loss | See cases [RCV000137494] | Chr22:21151069..22617194 [GRCh38] Chr22:21505358..22959664 [GRCh37] Chr22:19835358..21289664 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 | copy number gain | See cases [RCV000137926] | Chr22:20907226..37187347 [GRCh38] Chr22:21261514..37583387 [GRCh37] Chr22:19591514..35913333 [NCBI36] Chr22:22q11.21-12.3 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1 | copy number loss | See cases [RCV000137767] | Chr22:21454661..23312035 [GRCh38] Chr22:21808950..23654222 [GRCh37] Chr22:20138950..21984222 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 | copy number gain | See cases [RCV000138673] | Chr22:21207181..24247140 [GRCh38] Chr22:21561470..24643108 [GRCh37] Chr22:19891470..22973108 [NCBI36] Chr22:22q11.21-11.23 |
uncertain significance |
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 | copy number gain | See cases [RCV000139316] | Chr22:18178932..22562620 [GRCh38] Chr22:18661699..22905025 [GRCh37] Chr22:17041699..21235025 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh38/hg38 22q11.21-11.22(chr22:21151097-22562620)x1 | copy number loss | See cases [RCV000139333] | Chr22:21151097..22562620 [GRCh38] Chr22:21505386..22905025 [GRCh37] Chr22:19835386..21235025 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh38/hg38 22q11.21-11.22(chr22:21583391-22647760)x3 | copy number gain | See cases [RCV000140091] | Chr22:21583391..22647760 [GRCh38] Chr22:21937680..22990230 [GRCh37] Chr22:20267680..21320230 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 | copy number loss | See cases [RCV000141233] | Chr22:18339130..23480799 [GRCh38] Chr22:20279766..23822986 [GRCh37] Chr22:18659766..22152986 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.21-11.22(chr22:21447344-22655838)x1 | copy number loss | See cases [RCV000141561] | Chr22:21447344..22655838 [GRCh38] Chr22:21801633..22998308 [GRCh37] Chr22:20131633..21328308 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3 | copy number gain | See cases [RCV000142677] | Chr22:21151069..22489199 [GRCh38] Chr22:21505358..22843524 [GRCh37] Chr22:19835358..21173524 [NCBI36] Chr22:22q11.21-11.22 |
uncertain significance |
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22617194)x1 | copy number loss | See cases [RCV000143267] | Chr22:21454661..22617194 [GRCh38] Chr22:21808950..22959664 [GRCh37] Chr22:20138950..21289664 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic|uncertain significance|conflicting data from submitters |
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 | copy number gain | See cases [RCV000148078] | Chr22:21454661..23414686 [GRCh38] Chr22:21808950..23756873 [GRCh37] Chr22:20138950..22086873 [NCBI36] Chr22:22q11.21-11.23 |
uncertain significance |
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 | copy number loss | See cases [RCV000148145] | Chr22:21454661..22562663 [GRCh38] Chr22:21808950..22905068 [GRCh37] Chr22:20138950..21235068 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1 | copy number loss | See cases [RCV000240250] | Chr22:20749625..23972878 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.21-11.22(chr22:21923858-22963000)x1 | copy number loss | See cases [RCV000240088] | Chr22:21923858..22963000 [GRCh37] Chr22:22q11.21-11.22 |
likely pathogenic |
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 | copy number loss | Premature ovarian failure [RCV000225330] | Chr22:18738296..25914592 [GRCh37] Chr22:22q11.21-12.1 |
benign |
GRCh37/hg19 22q11.21-11.23(chr22:21400683-23654222)x3 | copy number gain | See cases [RCV000240040] | Chr22:21400683..23654222 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 | copy number gain | See cases [RCV000240091] | Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.21-11.22(chr22:21923858-23025727)x3 | copy number gain | See cases [RCV000240579] | Chr22:21923858..23025727 [GRCh37] Chr22:22q11.21-11.22 |
pathogenic |
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 | copy number gain | See cases [RCV000240483] | Chr22:17264511..23238029 [GRCh37] Chr22:22q11.1-11.22 |
pathogenic |
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 | copy number gain | See cases [RCV000240348] | Chr22:16054691..27296513 [GRCh37] Chr22:22q11.1-12.1 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 | copy number gain | See cases [RCV000446956] | Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 | copy number loss | See cases [RCV000446664] | Chr22:21029655..22481498 [GRCh37] Chr22:22q11.21-11.22 |
pathogenic |
GRCh37/hg19 22q11.21-11.22(chr22:21025654-22336268)x3 | copy number gain | See cases [RCV000445877] | Chr22:21025654..22336268 [GRCh37] Chr22:22q11.21-11.22 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:21804562-24659578)x3 | copy number gain | See cases [RCV000445928] | Chr22:21804562..24659578 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.21-11.22(chr22:21798906-22997928)x1 | copy number loss | See cases [RCV000448269] | Chr22:21798906..22997928 [GRCh37] Chr22:22q11.21-11.22 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 | copy number gain | See cases [RCV000448847] | Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 | copy number gain | See cases [RCV000448224] | Chr22:16888899..23723805 [GRCh37] Chr22:22q11.1-11.23 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:21804562-23781918)x3 | copy number gain | See cases [RCV000510372] | Chr22:21804562..23781918 [GRCh37] Chr22:22q11.21-11.23 |
uncertain significance |
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962196)x1 | copy number loss | See cases [RCV000510228] | Chr22:21798907..22962196 [GRCh37] Chr22:22q11.21-11.22 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 | copy number gain | See cases [RCV000510487] | Chr22:21798907..24963935 [GRCh37] Chr22:22q11.21-11.23 |
uncertain significance |
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 | copy number loss | See cases [RCV000511898] | Chr22:21029655..22481498 [GRCh37] Chr22:22q11.21-11.22 |
uncertain significance |
GRCh37/hg19 22q11.21-11.23(chr22:21798907-23666232)x1 | copy number loss | See cases [RCV000511441] | Chr22:21798907..23666232 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x1 | copy number loss | See cases [RCV000511924] | Chr22:21798907..22962962 [GRCh37] Chr22:22q11.21-11.22 |
pathogenic |
GRCh37/hg19 22q11.21-11.22(chr22:21800796-22998050)x3 | copy number gain | See cases [RCV000510925] | Chr22:21800796..22998050 [GRCh37] Chr22:22q11.21-11.22 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) | copy number gain | See cases [RCV000510873] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 | copy number gain | See cases [RCV000512333] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23804835)x1 | copy number loss | not provided [RCV000684507] | Chr22:21465661..23804835 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1 | copy number loss | not provided [RCV000684515] | Chr22:20716876..23819697 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1 | copy number loss | not provided [RCV000684518] | Chr22:21465661..24653491 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1 | copy number loss | not provided [RCV000684520] | Chr22:21465661..24885806 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.21-11.22(chr22:21804562-22962962)x3 | copy number gain | not provided [RCV000684491] | Chr22:21804562..22962962 [GRCh37] Chr22:22q11.21-11.22 |
uncertain significance |
GRCh37/hg19 22q11.21-11.22(chr22:21800470-22962196)x1 | copy number loss | not provided [RCV000684492] | Chr22:21800470..22962196 [GRCh37] Chr22:22q11.21-11.22 |
pathogenic |
GRCh37/hg19 22q11.21-11.22(chr22:21465661-22962196)x1 | copy number loss | not provided [RCV000684499] | Chr22:21465661..22962196 [GRCh37] Chr22:22q11.21-11.22 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 | copy number gain | not provided [RCV000741689] | Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:21679616-22095920)x1 | copy number loss | not provided [RCV000741778] | Chr22:21679616..22095920 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21-11.22(chr22:21689086-22979897)x1 | copy number loss | not provided [RCV000741779] | Chr22:21689086..22979897 [GRCh37] Chr22:22q11.21-11.22 |
uncertain significance |
GRCh37/hg19 22q11.21-11.22(chr22:21910280-22972396)x1 | copy number loss | not provided [RCV000741784] | Chr22:21910280..22972396 [GRCh37] Chr22:22q11.21-11.22 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 | copy number gain | not provided [RCV000741691] | Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 | copy number gain | not provided [RCV000741692] | Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.21-11.22(chr22:21800032-23237674) | copy number gain | not provided [RCV000767631] | Chr22:21800032..23237674 [GRCh37] Chr22:22q11.21-11.22 |
likely pathogenic |
NC_000022.10:g.21808950_22963000del1154051 | deletion | Chromosome 22q11.2 deletion syndrome, distal [RCV000785668] | Chr22:21808950..22963000 [GRCh37] Chr22:22q11.21-11.22 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313) | copy number loss | Chromosome 22q11.2 deletion syndrome, distal [RCV000767634] | Chr22:21797384..23630313 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.21-11.22(chr22:21915095-22603542)x3 | copy number gain | not provided [RCV000849651] | Chr22:21915095..22603542 [GRCh37] Chr22:22q11.21-11.22 |
uncertain significance |
GRCh37/hg19 22q11.21-11.23(chr22:21798906-23666232)x1 | copy number loss | not provided [RCV000849290] | Chr22:21798906..23666232 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 | copy number gain | not provided [RCV000846344] | Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1 | copy number loss | not provided [RCV000848992] | Chr22:21922619..23654064 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1 | copy number loss | not provided [RCV000846294] | Chr22:21465661..23810042 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:27158 | AgrOrtholog |
COSMIC | YDJC | COSMIC |
Ensembl Genes | ENSG00000161179 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000292778 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000381847 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000402481 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000292778 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000398873 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000415762 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000473985 | ENTREZGENE | |
GTEx | ENSG00000161179 | GTEx |
HGNC ID | HGNC:27158 | ENTREZGENE |
Human Proteome Map | YDJC | Human Proteome Map |
InterPro | Glyco_hydro/deAcase_b/a-brl | UniProtKB/Swiss-Prot |
YdjC-like | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:150223 | UniProtKB/Swiss-Prot |
NCBI Gene | 150223 | ENTREZGENE |
PANTHER | PTHR31609 | UniProtKB/Swiss-Prot |
Pfam | YdjC | UniProtKB/Swiss-Prot |
PharmGKB | PA162409362 | PharmGKB |
Superfamily-SCOP | SSF88713 | UniProtKB/Swiss-Prot |
UniGene | Hs.355952 | ENTREZGENE |
UniProt | A8MPS7 | ENTREZGENE, UniProtKB/Swiss-Prot |
UniProt Secondary | Q2YDT4 | UniProtKB/Swiss-Prot |
Q4V9R7 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2017-04-04 | YDJC | YdjC chitooligosaccharide deacetylase homolog | YdjC homolog (bacterial) | Symbol and/or name change | 5135510 | APPROVED |
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More on YDJC | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1604990 |
Created: | 2007-04-28 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.