Imported Annotations - CTD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:29531354 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology AnnotationsMolecular Function
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 3. | RGD automated import pipeline for gene-chemical interactions |
| 4. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
References - uncurated| PubMed | 9628581 12168954 15146197 16189514 16344560 19322201 19460752 21988832 22472876 23824909 26186194 26496610 26972000 27609421 27997041 29507755 |
Genomics
Comparative Map Data| ZCCHC14 (Homo sapiens - human) |
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| Zcchc14 (Mus musculus - house mouse) |
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| Zcchc14 (Rattus norvegicus - Norway rat) |
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| Zcchc14 (Chinchilla lanigera - long-tailed chinchilla) |
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| ZCCHC14 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| ZCCHC14 (Canis lupus familiaris - dog) |
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| Zcchc14 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| ZCCHC14 (Sus scrofa - pig) |
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Position Markers| SHGC-79020 |
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| SHGC-61175 |
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| RH48496 |
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| STS-Z40721 |
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miRNA Target Status
Confirmed Target Of
Predicted Target Of
| 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. |
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Expression
Sequence
Nucleotide Sequences| RefSeq Transcripts | NM_015144 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_005255858 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011522964 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017023082 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_243401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB011151 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AB030243 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC010531 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC092720 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC105429 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK289682 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL117532 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC028304 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC038944 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC101478 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471114 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CN352228 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB038312 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_015144 ⟹ NP_055959 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GGCGATGAGTTCCTGCTGCTGTTCACCATGGCCTCCAACCACCCGGCCTTCAGCTTCCACCAGAhide sequence |
| RefSeq Acc Id: | XM_005255858 ⟹ XP_005255915 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
AGGCCAACAACCCGGCCGACCTGGGCAGCCTCACCAACCTGACGGACGAGGTGGTGCGCAGCAAhide sequence |
| RefSeq Acc Id: | XM_011522964 ⟹ XP_011521266 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GTCGCCGTCGCCGTCGCCGTCGCCGTCGCCGCCGCCGCCGCGCTCGGGCCCGGATCCGTCCGCChide sequence |
| RefSeq Acc Id: | XM_017023082 ⟹ XP_016878571 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATCATGGTGAAGATTTACCTTGAAATATTCATGCAGCAGCATTATCATGTGGGAGCTGGTTAGAhide sequence |
| RefSeq Acc Id: | XR_243401 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | NON-CODING | ||||||||||||||
| Position: |
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| Sequence: |
AGGCCAACAACCCGGCCGACCTGGGCAGCCTCACCAACCTGACGGACGAGGTGGTGCGCAGCAAhide sequence |
Protein Sequences| Protein RefSeqs | NP_055959 | (Get FASTA) | NCBI Sequence Viewer |
| XP_005255915 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011521266 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016878571 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAI01479 | (Get FASTA) | NCBI Sequence Viewer |
| BAA25505 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB83129 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF82371 | (Get FASTA) | NCBI Sequence Viewer | |
| CAB55981 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW95388 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW95389 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW95390 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW95391 | (Get FASTA) | NCBI Sequence Viewer | |
| Q8WYQ9 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_055959 ⟸ NM_015144 |
| - Sequence: |
MASNHPAFSFHQKQVLRQELTQIQSSLNGGGGHGGKGAPGPGGALPTCPACHKITPRTEAPVSShide sequence |
| RefSeq Acc Id: | XP_005255915 ⟸ XM_005255858 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q8WYQ9 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MASNHPAFSFHQKQVLRQELTQIQSSLNGGGGHGGKGAPGPGGALPTCPACHKITPRTEAPVSShide sequence |
| RefSeq Acc Id: | XP_011521266 ⟸ XM_011522964 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MVEKRCPLQRDGVYRWFSELPSPQRVEFLCGLLDLCIPLELRFLGSCLEDLARKDYHSLRDSEIhide sequence |
| RefSeq Acc Id: | XP_016878571 ⟸ XM_017023082 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MWKTKKKFLGKIYGGKQITPRTEAPVSSVSNSLENALHTSAHSTEESLPKRPLGKHSKVSVEKIhide sequence |
Promoters| RGD ID: | 6793616 | |||||||||
| Promoter ID: | HG_KWN:24431 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | OTTHUMT00000269107, UC002FKA.1 | |||||||||
| Position: |
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| RGD ID: | 7233083 | |||||||||
| Promoter ID: | EPDNEW_H22286 | |||||||||
| Type: | initiation region | |||||||||
| Name: | ZCCHC14_1 | |||||||||
| Description: | zinc finger CCHC-type containing 14 | |||||||||
| 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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| RGD ID: | 7233081 | |||||||||
| Promoter ID: | EPDNEW_H22287 | |||||||||
| Type: | initiation region | |||||||||
| Name: | ZCCHC14_3 | |||||||||
| Description: | zinc finger CCHC-type containing 14 | |||||||||
| 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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| RGD ID: | 7233085 | |||||||||
| Promoter ID: | EPDNEW_H22288 | |||||||||
| Type: | initiation region | |||||||||
| Name: | ZCCHC14_2 | |||||||||
| Description: | zinc finger CCHC-type containing 14 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 | copy number gain | Global developmental delay [RCV000050840]|See cases [RCV000050840] | Chr16:78816291..90081985 [GRCh38] Chr16:78850188..90148393 [GRCh37] Chr16:77407689..88675894 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
| GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 | copy number gain | Hydronephrosis [RCV000052422]|See cases [RCV000052422] | Chr16:70514631..90081985 [GRCh38] Chr16:70548534..90148393 [GRCh37] Chr16:69106035..88675894 [NCBI36] Chr16:16q22.1-24.3 |
pathogenic |
| GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052421]|See cases [RCV000052421] | Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
| GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052423]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052423]|See cases [RCV000052423] | Chr16:76873569..90081985 [GRCh38] Chr16:76907466..90148393 [GRCh37] Chr16:75464967..88675894 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
| GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 | copy number gain | Abnormal facial shape [RCV000052424]|See cases [RCV000052424] | Chr16:82173150..90081985 [GRCh38] Chr16:82206755..90148393 [GRCh37] Chr16:80764256..88675894 [NCBI36] Chr16:16q23.3-24.3 |
pathogenic |
| GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] | Chr16:84707538..90081985 [GRCh38] Chr16:84741144..90148393 [GRCh37] Chr16:83298645..88675894 [NCBI36] Chr16:16q24.1-24.3 |
pathogenic |
| GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1 | copy number loss | Low-set ears [RCV000053359]|See cases [RCV000053359] | Chr16:78704275..87819342 [GRCh38] Chr16:78738172..87852948 [GRCh37] Chr16:77295673..86410449 [NCBI36] Chr16:16q23.1-24.2 |
pathogenic |
| GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053362]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053362]|See cases [RCV000053362] | Chr16:87306529..89269079 [GRCh38] Chr16:87340135..89335487 [GRCh37] Chr16:85897636..87862988 [NCBI36] Chr16:16q24.2-24.3 |
pathogenic |
| NM_015144.2(ZCCHC14):c.2817C>T (p.Ala939=) | single nucleotide variant | Malignant melanoma [RCV000071265] | Chr16:87410313 [GRCh38] Chr16:87443919 [GRCh37] Chr16:86001420 [NCBI36] Chr16:16q24.2 |
not provided |
| GRCh38/hg38 16q24.1-24.2(chr16:86672163-87766879)x1 | copy number loss | See cases [RCV000134960] | Chr16:86672163..87766879 [GRCh38] Chr16:86705769..87800485 [GRCh37] Chr16:85263270..86357986 [NCBI36] Chr16:16q24.1-24.2 |
likely pathogenic |
| GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 | copy number gain | See cases [RCV000135659] | Chr16:83988570..90081985 [GRCh38] Chr16:84022175..90148393 [GRCh37] Chr16:82579676..88675894 [NCBI36] Chr16:16q23.3-24.3 |
likely pathogenic |
| GRCh38/hg38 16q24.2(chr16:87223779-87853460)x1 | copy number loss | See cases [RCV000135624] | Chr16:87223779..87853460 [GRCh38] Chr16:87257385..87887066 [GRCh37] Chr16:85814886..86444567 [NCBI36] Chr16:16q24.2 |
uncertain significance |
| GRCh38/hg38 16q24.2(chr16:87150123-87812135)x1 | copy number loss | See cases [RCV000135595] | Chr16:87150123..87812135 [GRCh38] Chr16:87183729..87845741 [GRCh37] Chr16:85741230..86403242 [NCBI36] Chr16:16q24.2 |
likely pathogenic|uncertain significance |
| GRCh38/hg38 16q24.2(chr16:87223779-87440975)x1 | copy number loss | See cases [RCV000136537] | Chr16:87223779..87440975 [GRCh38] Chr16:87257385..87474581 [GRCh37] Chr16:85814886..86032082 [NCBI36] Chr16:16q24.2 |
uncertain significance |
| GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 | copy number gain | See cases [RCV000136898] | Chr16:80946659..90081985 [GRCh38] Chr16:80980556..90148393 [GRCh37] Chr16:79538057..88675894 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic|likely pathogenic |
| GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 | copy number gain | See cases [RCV000137495] | Chr16:70749398..90096995 [GRCh38] Chr16:70783301..90163403 [GRCh37] Chr16:69340802..88690904 [NCBI36] Chr16:16q22.1-24.3 |
pathogenic |
| GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 | copy number gain | See cases [RCV000137980] | Chr16:83478453..89932910 [GRCh38] Chr16:83512058..89999318 [GRCh37] Chr16:82069559..88526819 [NCBI36] Chr16:16q23.3-24.3 |
likely pathogenic |
| GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 | copy number gain | See cases [RCV000139426] | Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
| GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 | copy number gain | See cases [RCV000139302] | Chr16:75377981..90081992 [GRCh38] Chr16:75411879..90148400 [GRCh37] Chr16:73969380..88675901 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
| GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 | copy number gain | See cases [RCV000139658] | Chr16:85552976..90096995 [GRCh38] Chr16:85586582..90163403 [GRCh37] Chr16:84144083..88690904 [NCBI36] Chr16:16q24.1-24.3 |
pathogenic |
| GRCh38/hg38 16q24.2(chr16:87038922-87766879)x1 | copy number loss | See cases [RCV000139802] | Chr16:87038922..87766879 [GRCh38] Chr16:87072528..87800485 [GRCh37] Chr16:85630029..86357986 [NCBI36] Chr16:16q24.2 |
uncertain significance |
| GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 | copy number gain | See cases [RCV000141128] | Chr16:80717291..90096662 [GRCh38] Chr16:80751188..90163070 [GRCh37] Chr16:79308689..88690571 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic |
| GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 | copy number gain | See cases [RCV000141700] | Chr16:76336203..90088654 [GRCh38] Chr16:76370100..90155062 [GRCh37] Chr16:74927601..88682563 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
| GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 | copy number gain | See cases [RCV000142578] | Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic|likely pathogenic |
| GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 | copy number gain | See cases [RCV000142698] | Chr16:80067315..90057871 [GRCh38] Chr16:80101212..90124279 [GRCh37] Chr16:78658713..88651780 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic |
| GRCh38/hg38 16q24.2(chr16:87382052-87766879)x1 | copy number loss | See cases [RCV000142722] | Chr16:87382052..87766879 [GRCh38] Chr16:87415658..87800485 [GRCh37] Chr16:85973159..86357986 [NCBI36] Chr16:16q24.2 |
likely pathogenic|uncertain significance |
| GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 | copy number gain | See cases [RCV000143425] | Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3 |
pathogenic |
| GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1 | copy number loss | See cases [RCV000143624] | Chr16:86950106..89335814 [GRCh38] Chr16:86983712..89402222 [GRCh37] Chr16:85541213..87929723 [NCBI36] Chr16:16q24.1-24.3 |
pathogenic |
| GRCh38/hg38 16q24.2(chr16:87267492-87780225)x1 | copy number loss | See cases [RCV000143657] | Chr16:87267492..87780225 [GRCh38] Chr16:87301098..87813831 [GRCh37] Chr16:85858599..86371332 [NCBI36] Chr16:16q24.2 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 | copy number gain | See cases [RCV000240108] | Chr16:74872514..90274440 [GRCh37] Chr16:16q23.1-24.3 |
pathogenic |
| t(5;16)(p15.31;q23.1) | translocation | not provided [RCV000203391] | Chr5:1..8180513 [GRCh37] Chr16:76935310..90354753 [GRCh37] Chr5:5p15.33-15.31 |
likely pathogenic |
| Single allele | deletion | 16q24.3 microdeletion syndrome [RCV000258230] | Chr16:87183661..89520803 [GRCh37] Chr16:16q24.2-24.3 |
pathogenic |
| Single allele | deletion | 16q24.3 microdeletion syndrome [RCV000258380] | Chr16:87340135..89335428 [GRCh37] Chr16:16q24.2-24.3 |
pathogenic |
| GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 | copy number loss | Ductal breast carcinoma [RCV000207138] | Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3 |
uncertain significance |
| GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 | copy number loss | Ductal breast carcinoma [RCV000207182] | Chr16:72107834..90142285 [GRCh37] Chr16:16q22.2-24.3 |
uncertain significance |
| Single allele | complex | Ductal breast carcinoma [RCV000207314] | Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3 |
uncertain significance |
| GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 | copy number gain | See cases [RCV000446110] | Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
| GRCh37/hg19 16q24.2(chr16:87409427-87446304)x1 | copy number loss | See cases [RCV000446674] | Chr16:87409427..87446304 [GRCh37] Chr16:16q24.2 |
uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 | copy number gain | See cases [RCV000446684] | Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16q24.1-24.2(chr16:85491404-87883528)x1 | copy number loss | See cases [RCV000510624] | Chr16:85491404..87883528 [GRCh37] Chr16:16q24.1-24.2 |
pathogenic |
| GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1 | copy number loss | not provided [RCV000509325] | Chr16:87219866..89561087 [GRCh37] Chr16:16q24.2-24.3 |
not provided |
| GRCh37/hg19 16q24.2(chr16:87428533-87486111)x1 | copy number loss | See cases [RCV000511653] | Chr16:87428533..87486111 [GRCh37] Chr16:16q24.2 |
uncertain significance |
| GRCh37/hg19 16q24.2(chr16:87333237-87457042)x1 | copy number loss | See cases [RCV000511682] | Chr16:87333237..87457042 [GRCh37] Chr16:16q24.2 |
likely pathogenic |
| GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 | copy number gain | See cases [RCV000511622] | Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3 |
uncertain significance |
| GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 | copy number gain | See cases [RCV000511606] | Chr16:84937273..89836905 [GRCh37] Chr16:16q24.1-24.3 |
likely pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 | copy number gain | See cases [RCV000512138] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 | copy number loss | PARP Inhibitor response [RCV000626429] | Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
| GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 | copy number gain | See cases [RCV000512511] | Chr16:57051473..89797669 [GRCh37] Chr16:16q13-24.3 |
pathogenic |
| GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 | copy number gain | See cases [RCV000512440] | Chr16:85838574..90155062 [GRCh37] Chr16:16q24.1-24.3 |
pathogenic |
| GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 | copy number gain | See cases [RCV000512468] | Chr16:83001540..90155062 [GRCh37] Chr16:16q23.3-24.3 |
likely pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) | copy number gain | See cases [RCV000511296] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 | copy number loss | PARP Inhibitor response [RCV000626435] | Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
| Single allele | deletion | not provided [RCV000677910] | Chr16:86890893..89398630 [GRCh37] Chr16:16q24.1-24.3 |
pathogenic |
| GRCh37/hg19 16q24.2(chr16:87149360-87848903)x1 | copy number loss | not provided [RCV000683854] | Chr16:87149360..87848903 [GRCh37] Chr16:16q24.2 |
uncertain significance |
| GRCh37/hg19 16q24.2(chr16:87307128-87551687)x1 | copy number loss | not provided [RCV000683855] | Chr16:87307128..87551687 [GRCh37] Chr16:16q24.2 |
uncertain significance |
| GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 | copy number gain | not provided [RCV000683845] | Chr16:79400436..90155062 [GRCh37] Chr16:16q23.2-24.3 |
pathogenic |
| GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 | copy number gain | not provided [RCV000683831] | Chr16:72515938..90155062 [GRCh37] Chr16:16q22.2-24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 | copy number gain | not provided [RCV000738917] | Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 | copy number gain | not provided [RCV000738918] | Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 | copy number gain | not provided [RCV000738915] | Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16q24.2(chr16:87153890-87518829)x1 | copy number loss | not provided [RCV000751802] | Chr16:87153890..87518829 [GRCh37] Chr16:16q24.2 |
benign |
| GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) | copy number gain | not provided [RCV000767619] | Chr16:82761333..90055381 [GRCh37] Chr16:16q23.3-24.3 |
pathogenic |
| GRCh37/hg19 16q24.2(chr16:87513448-87930837)x1 | copy number loss | not provided [RCV000848541] | Chr16:87513448..87930837 [GRCh37] Chr16:16q24.2 |
uncertain significance |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:24134 | AgrOrtholog |
| COSMIC | ZCCHC14 | COSMIC |
| Ensembl Genes | ENSG00000140948 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000268616 | UniProtKB/Swiss-Prot |
| ENSP00000456499 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000499622 | ENTREZGENE, UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000268616 | UniProtKB/Swiss-Prot |
| ENST00000561928 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000671377 | ENTREZGENE, UniProtKB/TrEMBL | |
| Gene3D-CATH | 1.10.150.50 | UniProtKB/Swiss-Prot |
| 3.30.1520.10 | UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000140948 | GTEx |
| HGNC ID | HGNC:24134 | ENTREZGENE |
| Human Proteome Map | ZCCHC14 | Human Proteome Map |
| InterPro | PX_dom_sf | UniProtKB/Swiss-Prot |
| SAM/pointed_sf | UniProtKB/Swiss-Prot | |
| ZCCH14_SAM | UniProtKB/Swiss-Prot | |
| ZCCHC14 | UniProtKB/Swiss-Prot | |
| Znf_CCHC | UniProtKB/Swiss-Prot | |
| Znf_CCHC_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:23174 | UniProtKB/Swiss-Prot |
| NCBI Gene | 23174 | ENTREZGENE |
| PANTHER | PTHR16195 | UniProtKB/Swiss-Prot |
| Pfam | zf-CCHC | UniProtKB/Swiss-Prot |
| PharmGKB | PA134895795 | PharmGKB |
| PROSITE | ZF_CCHC | UniProtKB/Swiss-Prot |
| SMART | ZnF_C2HC | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF47769 | UniProtKB/Swiss-Prot |
| SSF57756 | UniProtKB/Swiss-Prot | |
| SSF64268 | UniProtKB/Swiss-Prot | |
| UniGene | Hs.156231 | ENTREZGENE |
| UniProt | A0A590UJW6_HUMAN | UniProtKB/TrEMBL |
| H3BS18_HUMAN | UniProtKB/TrEMBL | |
| Q8WYQ9 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | D3DUN1 | UniProtKB/Swiss-Prot |
| O60324 | UniProtKB/Swiss-Prot | |
| Q3MJD8 | UniProtKB/Swiss-Prot | |
| Q9UFP0 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-02-16 | ZCCHC14 | zinc finger CCHC-type containing 14 | zinc finger, CCHC domain containing 14 | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on ZCCHC14 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1349569 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
