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![]() Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 17alpha-ethynylestradiol | multiple interactions | ISO | RGD:1316550 | 6480464 | [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SURF6 mRNA | CTD | PMID:17942748 | 17beta-estradiol | increases expression | EXP | | 6480464 | Estradiol results in increased expression of SURF6 mRNA | CTD | PMID:23019147 | 2,3,7,8-tetrachlorodibenzodioxine | multiple interactions | ISO | RGD:1316550 | 6480464 | [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SURF6 mRNA | CTD | PMID:17942748 | 2,3,7,8-tetrachlorodibenzodioxine | affects expression | ISO | RGD:1316550 | 6480464 | Tetrachlorodibenzodioxin affects the expression of SURF6 mRNA | CTD | PMID:21570461 | 2,4-dinitrotoluene | affects expression | ISO | RGD:1307382 | 6480464 | 2, 4-dinitrotoluene affects the expression of SURF6 mRNA | CTD | PMID:21346803 | 2,6-dinitrotoluene | affects expression | ISO | RGD:1307382 | 6480464 | 2, 6-dinitrotoluene affects the expression of SURF6 mRNA | CTD | PMID:21346803 | 4,4'-diaminodiphenylmethane | decreases expression | ISO | RGD:1316550 | 6480464 | 4, 4'-diaminodiphenylmethane results in decreased expression of SURF6 mRNA | CTD | PMID:18648102 | aflatoxin B1 | increases expression | ISO | RGD:1316550 | 6480464 | Aflatoxin B1 results in increased expression of SURF6 mRNA | CTD | PMID:19770486 | all-trans-retinoic acid | decreases expression | EXP | | 6480464 | Tretinoin results in decreased expression of SURF6 mRNA | CTD | PMID:23724009 | benzo[a]pyrene | increases expression | ISO | RGD:1316550 | 6480464 | Benzo(a)pyrene results in increased expression of SURF6 mRNA | CTD | PMID:22228805 | bisphenol A | increases expression | ISO | RGD:1307382 | 6480464 | bisphenol A results in increased expression of SURF6 mRNA | CTD | PMID:25181051 | cadmium atom | increases expression | EXP | | 6480464 | Cadmium results in increased expression of SURF6 mRNA | CTD | PMID:24376830 | cadmium dichloride | increases methylation | ISO | RGD:1307382 | 6480464 | Cadmium Chloride results in increased methylation of SURF6 promoter | CTD | PMID:22457795 | carbon nanotube | increases expression | ISO | RGD:1316550 | 6480464 | Nanotubes, Carbon results in increased expression of SURF6 mRNA | CTD | PMID:25554681 | cefaloridine | decreases expression | ISO | RGD:1307382 | 6480464 | Cephaloridine results in decreased expression of SURF6 mRNA | CTD | PMID:18500788 | cisplatin | decreases expression | EXP | | 6480464 | Cisplatin results in decreased expression of SURF6 mRNA | CTD | PMID:27392435, PMID:27594783 | clofibrate | increases expression | ISO | RGD:1316550 | 6480464 | Clofibrate results in increased expression of SURF6 mRNA | CTD | PMID:17585979 | copper(II) sulfate | increases expression | EXP | | 6480464 | Copper Sulfate results in increased expression of SURF6 mRNA | CTD | PMID:19549813 | decabromodiphenyl ether | increases expression | ISO | RGD:1307382 | 6480464 | decabromobiphenyl ether results in increased expression of SURF6 mRNA | CTD | PMID:23640034 | dioxygen | multiple interactions | ISO | RGD:1316550 | 6480464 | [NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of SURF6 mRNA | CTD | PMID:30529165 | enzyme inhibitor | multiple interactions | EXP | | 6480464 | [Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of SURF6 protein | CTD | PMID:23301498 | gentamycin | increases expression | ISO | RGD:1307382 | 6480464 | Gentamicins results in increased expression of SURF6 mRNA | CTD | PMID:22061828 | lead(0) | affects expression | EXP | | 6480464 | Lead affects the expression of SURF6 mRNA | CTD | PMID:22313790 | lead(2+) | affects expression | EXP | | 6480464 | Lead affects the expression of SURF6 mRNA | CTD | PMID:22313790 | N-nitrosodiethylamine | multiple interactions | ISO | RGD:1307382 | 6480464 | [Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of SURF6 mRNA | CTD | PMID:28943392 | paracetamol | affects expression | ISO | RGD:1316550 | 6480464 | Acetaminophen affects the expression of SURF6 mRNA | CTD | PMID:17562736 | silicon dioxide | increases expression | EXP | | 6480464 | Silicon Dioxide analog results in increased expression of SURF6 mRNA | CTD | PMID:25895662 | tetrachloromethane | increases expression | ISO | RGD:1316550 | 6480464 | Carbon Tetrachloride results in increased expression of SURF6 mRNA | CTD | PMID:27339419 | thioacetamide | multiple interactions | ISO | RGD:1307382 | 6480464 | [Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of SURF6 mRNA | CTD | PMID:28943392 | trichostatin A | affects expression | EXP | | 6480464 | trichostatin A affects the expression of SURF6 mRNA | CTD | PMID:28542535 | urethane | decreases expression | EXP | | 6480464 | Urethane results in decreased expression of SURF6 mRNA | CTD | PMID:28818685 | valproic acid | increases methylation | EXP | | 6480464 | Valproic Acid results in increased methylation of SURF6 gene | CTD | PMID:29154799 | vinclozolin | decreases expression | ISO | RGD:1307382 | 6480464 | vinclozolin results in decreased expression of SURF6 mRNA | CTD | PMID:23034163 | |
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1. | GOA_HUMAN data from the GO Consortium |
2. | RGD automated import pipeline for gene-chemical interactions |
PubMed | 8499913 8639267 8889548 9548374 9740673 10675619 11790298 11891058 12477932 14702039 15146197 15489334 15629442 15635413 16712791 21063453 21081503 21873635 22113938 22316485 22586326 22658674 22681889 23267103 23509962 24094242 24778252 25134534 25544563 25898752 26186194 26344197 26496610 27705803 28514442 28695742 29117863 29128334 29467281 29483575 29509190 29568061 30471916 |
SURF6 (Homo sapiens - human) |
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Surf6 (Mus musculus - house mouse) |
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Surf6 (Rattus norvegicus - Norway rat) |
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Surf6 (Chinchilla lanigera - long-tailed chinchilla) |
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SURF6 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SURF6 (Canis lupus familiaris - dog) |
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Surf6 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SURF6 (Sus scrofa - pig) |
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WI-11910 |
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RH48554 |
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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_001278942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_006753 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_103874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC002107 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF186772 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI085033 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ224639 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK054884 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL158826 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL772161 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC003001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC006197 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC014878 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI820270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM451240 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM676548 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CB158198 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD104374 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN260811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001278942 ⟹ NP_001265871 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
GGTGGTTTCCGGCGGAGGTGGTGAGAGTCGCACGCGCAGCGGGGAAGGTGTGAGTCGTGAACGGhide sequence |
RefSeq Acc Id: | NM_006753 ⟹ NP_006744 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
GGTGGTTTCCGGCGGAGGTGGTGAGAGTCGCACGCGCAGCGGGGAAGGTGTGAGTCGTGAACGGhide sequence |
RefSeq Acc Id: | NR_103874 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
GGTGGTTTCCGGCGGAGGTGGTGAGAGTCGCACGCGCAGCGGGGAAGGTGTGAGTCGTGAACGGhide sequence |
Protein RefSeqs | NP_001265871 | (Get FASTA) | NCBI Sequence Viewer |
NP_006744 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD56587 | (Get FASTA) | NCBI Sequence Viewer |
AAH03001 | (Get FASTA) | NCBI Sequence Viewer | |
AAH06197 | (Get FASTA) | NCBI Sequence Viewer | |
AAH14878 | (Get FASTA) | NCBI Sequence Viewer | |
BAG51440 | (Get FASTA) | NCBI Sequence Viewer | |
CAA12054 | (Get FASTA) | NCBI Sequence Viewer | |
CAI12825 | (Get FASTA) | NCBI Sequence Viewer | |
EAW88055 | (Get FASTA) | NCBI Sequence Viewer | |
O75683 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_006744 ⟸ NM_006753 |
- Peptide Label: | isoform 1 |
- UniProtKB: | O75683 (UniProtKB/Swiss-Prot) |
- Sequence: |
MASLLAKDAYLQSLAKKICSHSAPEQQARTRAGKTQGSETAGPPKKKRKKTQKKFRKREEKAAEhide sequence |
RefSeq Acc Id: | NP_001265871 ⟸ NM_001278942 |
- Peptide Label: | isoform 2 |
- UniProtKB: | O75683 (UniProtKB/Swiss-Prot) |
- Sequence: |
MASLLAKDAYLQSLAKKICSHSAPEQQARTRAGKTQGSETAGPPKKKRKKTQKKFRKREEKAAEhide sequence |
RGD ID: | 7216527 | |||||||||
Promoter ID: | EPDNEW_H14009 | |||||||||
Type: | initiation region | |||||||||
Name: | SURF6_1 | |||||||||
Description: | surfeit 6 | |||||||||
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: | 7216529 | |||||||||
Promoter ID: | EPDNEW_H14010 | |||||||||
Type: | initiation region | |||||||||
Name: | SURF6_3 | |||||||||
Description: | surfeit 6 | |||||||||
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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RGD ID: | 7216531 | |||||||||
Promoter ID: | EPDNEW_H14011 | |||||||||
Type: | initiation region | |||||||||
Name: | SURF6_2 | |||||||||
Description: | surfeit 6 | |||||||||
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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RGD ID: | 6808283 | |||||||||
Promoter ID: | HG_KWN:65438 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
Transcripts: | OTTHUMT00000054906 | |||||||||
Position: |
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RGD ID: | 6808281 | |||||||||
Promoter ID: | HG_KWN:65439 | |||||||||
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: | OTTHUMT00000054905 | |||||||||
Position: |
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RGD ID: | 6852778 | |||||||||
Promoter ID: | EP74204 | |||||||||
Type: | initiation region | |||||||||
Name: | HS_SURF6 | |||||||||
Description: | Surfeit 6. | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Mammalian gene collection (MGC) full-length cDNA cloning | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|See cases [RCV000051040] | Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|See cases [RCV000051009] | Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053779]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053779]|See cases [RCV000053779] | Chr9:129068560..136495351 [GRCh38] Chr9:131830839..139389803 [GRCh37] Chr9:130870660..138509624 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.2(chr9:131406683-133852779)x4 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|See cases [RCV000053812] | Chr9:131406683..133852779 [GRCh38] Chr9:134282070..136717901 [GRCh37] Chr9:133271891..135707722 [NCBI36] Chr9:9q34.13-34.2 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] | Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 | copy number gain | See cases [RCV000133778] | Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 | copy number gain | See cases [RCV000134916] | Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 | copy number gain | See cases [RCV000134920] | Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 | copy number gain | See cases [RCV000136790] | Chr9:132986903..138114463 [GRCh38] Chr9:135862290..141008915 [GRCh37] Chr9:134852111..140128736 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 | copy number gain | See cases [RCV000142636] | Chr9:132386553..138059695 [GRCh38] Chr9:135261940..140954147 [GRCh37] Chr9:134251761..140073968 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q34.13-34.2(chr9:135797171-136245956)x3 | copy number gain | See cases [RCV000447436] | Chr9:135797171..136245956 [GRCh37] Chr9:9q34.13-34.2 |
uncertain significance |
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 | copy number gain | See cases [RCV000447080] | Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 | copy number gain | See cases [RCV000448784] | Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3 |
pathogenic |
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548]|Seizures [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 | copy number loss | mTOR Inhibitor response [RCV000626442] | Chr9:135377559..141213431 [GRCh37] Chr9:9q34.13-34.3 |
drug response |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 | copy number gain | not provided [RCV000683160] | Chr9:135105971..141020389 [GRCh37] Chr9:9q34.13-34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NC_000009.11:g.(?_134379574)_(138678377_?)dup | duplication | Ehlers-Danlos syndrome, classic type [RCV000807925] | Chr9:134379574..138678377 [GRCh37] Chr9:9q34.13-34.3 |
uncertain significance |
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:11478 | AgrOrtholog |
COSMIC | SURF6 | COSMIC |
Ensembl Genes | ENSG00000148296 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSG00000281309 | UniProtKB/Swiss-Prot | |
Ensembl Protein | ENSP00000361092 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000485909 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000372022 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000629980 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000148296 | GTEx |
ENSG00000281309 | GTEx | |
HGNC ID | HGNC:11478 | ENTREZGENE |
Human Proteome Map | SURF6 | Human Proteome Map |
InterPro | Rrp14/SURF6_C | UniProtKB/Swiss-Prot |
SURF6 | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:6838 | UniProtKB/Swiss-Prot |
NCBI Gene | 6838 | ENTREZGENE |
OMIM | 185642 | OMIM |
PANTHER | PTHR14369 | UniProtKB/Swiss-Prot |
Pfam | SURF6 | UniProtKB/Swiss-Prot |
PharmGKB | PA36263 | PharmGKB |
UniGene | Hs.274430 | ENTREZGENE |
UniProt | O75683 | ENTREZGENE, UniProtKB/Swiss-Prot |
UniProt Secondary | Q5T8U1 | UniProtKB/Swiss-Prot |
Q9BRK9 | UniProtKB/Swiss-Prot | |
Q9BTZ5 | UniProtKB/Swiss-Prot | |
Q9UK24 | UniProtKB/Swiss-Prot |
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More on SURF6 | |
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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: | 1316549 |
Created: | 2005-01-12 |
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.