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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CCIN | Human | spermatogenic failure 91 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CCIN | Human | spermatogenic failure 91 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7641791 | PMID:11090452 | PMID:12477932 | PMID:19490893 | PMID:21630459 | PMID:21832049 | PMID:21873635 | PMID:32814053 | PMID:33961781 | PMID:36546111 | PMID:38334954 | PMID:38573307 |
CCIN (Homo sapiens - human) |
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Ccin (Mus musculus - house mouse) |
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Ccin (Rattus norvegicus - Norway rat) |
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Ccin (Chinchilla lanigera - long-tailed chinchilla) |
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CCIN (Pan paniscus - bonobo/pygmy chimpanzee) |
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CCIN (Canis lupus familiaris - dog) |
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Ccin (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CCIN (Sus scrofa - pig) |
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CCIN (Chlorocebus sabaeus - green monkey) |
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Ccin (Heterocephalus glaber - naked mole-rat) |
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Variants in CCIN
49 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | See cases [RCV000050357] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 | copy number gain | See cases [RCV000051106] | Chr9:204193..38741440 [GRCh38] Chr9:204193..38741437 [GRCh37] Chr9:194193..38731437 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 | copy number gain | See cases [RCV000053703] | Chr9:203993..38815619 [GRCh38] Chr9:203993..38815616 [GRCh37] Chr9:193993..38805616 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 | copy number gain | See cases [RCV000053747] | Chr9:220253..38815419 [GRCh38] Chr9:220253..38815416 [GRCh37] Chr9:210253..38805416 [NCBI36] Chr9:9p24.3-13.1 |
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 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_005893.2(CCIN):c.564C>T (p.Asn188=) | single nucleotide variant | Malignant melanoma [RCV000068660] | Chr9:36170066 [GRCh38] Chr9:36170063 [GRCh37] Chr9:36160063 [NCBI36] Chr9:9p13.3 |
not provided |
NM_005893.2(CCIN):c.565C>T (p.Leu189Phe) | single nucleotide variant | Malignant melanoma [RCV000068661] | Chr9:36170067 [GRCh38] Chr9:36170064 [GRCh37] Chr9:36160064 [NCBI36] Chr9:9p13.3 |
not provided |
NM_005893.2(CCIN):c.597C>T (p.Ser199=) | single nucleotide variant | Malignant melanoma [RCV000068662] | Chr9:36170099 [GRCh38] Chr9:36170096 [GRCh37] Chr9:36160096 [NCBI36] Chr9:9p13.3 |
not provided |
NM_005893.2(CCIN):c.779G>A (p.Arg260His) | single nucleotide variant | Malignant melanoma [RCV000061942] | Chr9:36170281 [GRCh38] Chr9:36170278 [GRCh37] Chr9:36160278 [NCBI36] Chr9:9p13.3 |
not provided |
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 9p13.3-13.1(chr9:33225730-38529813)x3 | copy number gain | See cases [RCV000133829] | Chr9:33225730..38529813 [GRCh38] Chr9:33225728..38529810 [GRCh37] Chr9:33215728..38519810 [NCBI36] Chr9:9p13.3-13.1 |
pathogenic |
GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3 | copy number gain | See cases [RCV000134038] | Chr9:35623500..38815474 [GRCh38] Chr9:35623497..38815471 [GRCh37] Chr9:35613497..38805471 [NCBI36] Chr9:9p13.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 | copy number gain | See cases [RCV000135344] | Chr9:13997..68401065 [GRCh38] Chr9:13997..71015981 [GRCh37] Chr9:3997..70205801 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 | copy number loss | See cases [RCV000134762] | Chr9:33572681..36782015 [GRCh38] Chr9:33572679..36782012 [GRCh37] Chr9:33562679..36772012 [NCBI36] Chr9:9p13.3-13.2 |
pathogenic |
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 | copy number gain | See cases [RCV000136152] | Chr9:193412..70630731 [GRCh38] Chr9:220253..73245647 [GRCh37] Chr9:210253..72435467 [NCBI36] Chr9:9p24.3-q21.12 |
pathogenic |
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 | copy number gain | See cases [RCV000135954] | Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13 |
pathogenic |
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 | copy number gain | See cases [RCV000137741] | Chr9:7162304..37038771 [GRCh38] Chr9:7162304..37038768 [GRCh37] Chr9:7152304..37028768 [NCBI36] Chr9:9p24.1-13.2 |
pathogenic |
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 | copy number gain | See cases [RCV000137888] | Chr9:204104..66233120 [GRCh38] Chr9:204104..47212321 [GRCh37] Chr9:194104..47002141 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic|conflicting data from submitters |
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 9p24.3-q21.11(chr9:204104-67549861)x3 | copy number gain | See cases [RCV000139208] | Chr9:204104..67549861 [GRCh38] Chr9:204104..66516698 [GRCh37] Chr9:194104..66256518 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 | copy number gain | See cases [RCV000139126] | Chr9:204104..38768294 [GRCh38] Chr9:204104..38768291 [GRCh37] Chr9:194104..38758291 [NCBI36] Chr9:9p24.3-13.1 |
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 9p22.2-q21.11(chr9:18344605-68257015) | copy number gain | See cases [RCV000140448] | Chr9:18344605..68257015 [GRCh38] Chr9:18344603..68995221 [GRCh37] Chr9:18334603..68285041 [NCBI36] Chr9:9p22.2-q21.11 |
pathogenic |
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 | copy number gain | See cases [RCV000141904] | Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
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 9p21.1-q21.11(chr9:31426827-68257015)x3 | copy number gain | See cases [RCV000141663] | Chr9:31426827..68257015 [GRCh38] Chr9:31426825..68330127 [GRCh37] Chr9:31416825..67819947 [NCBI36] Chr9:9p21.1-q21.11 |
pathogenic |
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 | copy number gain | See cases [RCV000142317] | Chr9:28975663..38787483 [GRCh38] Chr9:28975661..38787480 [GRCh37] Chr9:28965661..38777480 [NCBI36] Chr9:9p21.1-13.1 |
likely pathogenic |
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 | copy number gain | See cases [RCV000143012] | Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) | copy number gain | See cases [RCV000143411] | Chr9:203861..38381642 [GRCh38] Chr9:203861..38381639 [GRCh37] Chr9:193861..38371639 [NCBI36] Chr9:9p24.3-13.1 |
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 |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | See cases [RCV000148159] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
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 |
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 | copy number gain | See cases [RCV000240201] | Chr9:163131..38763958 [GRCh37] Chr9:9p24.3-13.1 |
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 9p24.3-11.2(chr9:213161-47212321)x4 | copy number gain | See cases [RCV000240048] | Chr9:213161..47212321 [GRCh37] Chr9:9p24.3-11.2 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 | copy number gain | See cases [RCV000239869] | Chr9:213161..39092820 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
Single allele | complex | Glioma [RCV000754871] | Chr9:23524426..87359888 [GRCh37] Chr9:9p21.3-q21.33 |
likely pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 | copy number gain | See cases [RCV000449165] | Chr9:203861..68188391 [GRCh37] Chr9:9p24.3-q13 |
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 | not specified [RCV003986800] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | See cases [RCV000446521] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) | copy number gain | See cases [RCV000447246] | Chr9:32396..39140211 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 | copy number gain | See cases [RCV000448242] | Chr9:13997..70919878 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 | copy number gain | See cases [RCV000448569] | Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11 |
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 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | See cases [RCV000510864] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
NM_005893.3(CCIN):c.740C>T (p.Ser247Leu) | single nucleotide variant | not specified [RCV004307863] | Chr9:36170242 [GRCh38] Chr9:36170239 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.1097T>C (p.Val366Ala) | single nucleotide variant | not specified [RCV004301130] | Chr9:36170599 [GRCh38] Chr9:36170596 [GRCh37] Chr9:9p13.3 |
uncertain significance |
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 | copy number gain | Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] | Chr9:204193..44259464 [GRCh37] Chr9:9p24.3-11.2 |
likely pathogenic |
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 | copy number gain | See cases [RCV000512431] | Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33 |
pathogenic |
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 9p24.3-q13(chr9:203861-68262804)x3,4 | copy number gain | not provided [RCV000683174] | Chr9:203861..68262804 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | not provided [RCV000683173] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | not provided [RCV000683172] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 | copy number gain | not provided [RCV000683176] | Chr9:203861..72717793 [GRCh37] Chr9:9p24.3-q21.12 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 | copy number gain | not provided [RCV000683175] | Chr9:203861..70985795 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
NC_000009.11:g.(?_34645556)_(36277059_?)dup | duplication | Anauxetic dysplasia [RCV000708053] | Chr9:34645559..36277062 [GRCh38] Chr9:34645556..36277059 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NC_000009.11:g.(?_34458984)_(36277059_?)dup | duplication | Autosomal recessive distal spinal muscular atrophy 2 [RCV000708492] | Chr9:34458984..36277059 [GRCh37] Chr9:9p13.3 |
uncertain significance |
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 |
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 |
NM_005893.3(CCIN):c.1453C>T (p.Arg485Trp) | single nucleotide variant | not provided [RCV000883724] | Chr9:36170955 [GRCh38] Chr9:36170952 [GRCh37] Chr9:9p13.3 |
benign |
NM_005893.3(CCIN):c.599C>A (p.Ala200Glu) | single nucleotide variant | not specified [RCV004299419] | Chr9:36170101 [GRCh38] Chr9:36170098 [GRCh37] Chr9:9p13.3 |
uncertain significance |
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) | copy number gain | not provided [RCV000767644] | Chr9:214309..39156958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
NM_005893.3(CCIN):c.1249G>A (p.Ala417Thr) | single nucleotide variant | not specified [RCV004312995] | Chr9:36170751 [GRCh38] Chr9:36170748 [GRCh37] Chr9:9p13.3 |
uncertain significance |
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 | copy number gain | not provided [RCV000845815] | Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 | copy number gain | not provided [RCV000849826] | Chr9:34542635..68210033 [GRCh37] Chr9:9p13.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 | copy number gain | not provided [RCV000848175] | Chr9:203861..38472979 [GRCh37] Chr9:9p24.3-13.1 |
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 |
NM_005893.3(CCIN):c.1294C>T (p.Arg432Trp) | single nucleotide variant | Spermatogenic failure 91 [RCV004556886] | Chr9:36170796 [GRCh38] Chr9:36170793 [GRCh37] Chr9:9p13.3 |
pathogenic |
NM_005893.3(CCIN):c.1341C>A (p.Cys447Ter) | single nucleotide variant | Spermatogenic failure 91 [RCV004556887] | Chr9:36170843 [GRCh38] Chr9:36170840 [GRCh37] Chr9:9p13.3 |
pathogenic |
GRCh37/hg19 9p13.3-13.1(chr9:36088563-39092820)x1 | copy number loss | Neurodevelopmental disorder [RCV001580194] | Chr9:36088563..39092820 [GRCh37] Chr9:9p13.3-13.1 |
pathogenic |
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1 | copy number loss | Neurodevelopmental disorder [RCV001580195] | Chr9:35059633..37660586 [GRCh37] Chr9:9p13.3-13.2 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 | copy number gain | not provided [RCV001006167] | Chr9:203861..70984588 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) | copy number gain | Tetrasomy 9p [RCV002280656] | Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 | copy number gain | not provided [RCV001259519] | Chr9:32192406..38311776 [GRCh37] Chr9:9p21.1-13.2 |
likely pathogenic |
NM_005893.3(CCIN):c.1253T>C (p.Val418Ala) | single nucleotide variant | not specified [RCV004609898] | Chr9:36170755 [GRCh38] Chr9:36170752 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NC_000009.11:g.(?_35683146)_(36277049_?)dup | duplication | Arthrogryposis, distal, type 1A [RCV001345686] | Chr9:35683146..36277049 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NC_000009.11:g.(?_34459004)_(36276941_?)del | deletion | Hyperphosphatasia with intellectual disability syndrome 2 [RCV001382817] | Chr9:34459004..36276941 [GRCh37] Chr9:9p13.3 |
pathogenic |
NM_005893.3(CCIN):c.125A>T (p.His42Leu) | single nucleotide variant | Spermatogenic failure 91 [RCV004556885] | Chr9:36169627 [GRCh38] Chr9:36169624 [GRCh37] Chr9:9p13.3 |
pathogenic |
NC_000009.11:g.12246100_101559378inv | inversion | Recurrent spontaneous abortion [RCV000999471] | Chr9:12246100..101559378 [GRCh37] Chr9:9p23-q22.33 |
likely pathogenic |
NC_000009.11:g.(?_32453279)_(37785041_?)dup | duplication | Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] | Chr9:32453279..37785041 [GRCh37] Chr9:9p21.1-13.2 |
uncertain significance|no classifications from unflagged records |
NM_005893.3(CCIN):c.853G>A (p.Gly285Ser) | single nucleotide variant | Spermatogenic failure 91 [RCV004556847] | Chr9:36170355 [GRCh38] Chr9:36170352 [GRCh37] Chr9:9p13.3 |
pathogenic|uncertain significance |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) | copy number gain | not specified [RCV002053818] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) | copy number gain | not specified [RCV002053820] | Chr9:203861..84155399 [GRCh37] Chr9:9p24.3-q21.32 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) | copy number gain | not specified [RCV002053823] | Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) | copy number gain | not specified [RCV002053819] | Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
NC_000009.11:g.(?_34459004)_(36276941_?)dup | duplication | Hyperphosphatasia with intellectual disability syndrome 2 [RCV001933515] | Chr9:34459004..36276941 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NC_000009.11:g.(?_34370797)_(36276941_?)dup | duplication | Anauxetic dysplasia [RCV003114124] | Chr9:34370797..36276941 [GRCh37] Chr9:9p13.3 |
uncertain significance |
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) | copy number gain | Bradycardia [RCV002280662] | Chr9:203861..68342786 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 | copy number gain | Syndromic anorectal malformation [RCV002286608] | Chr9:48827..39154913 [GRCh37] Chr9:9p24.3-13.1 |
likely pathogenic |
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) | copy number loss | Distal tetrasomy 15q [RCV002280776] | Chr9:19356861..119513311 [GRCh37] Chr9:9p22.1-q33.1 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 | copy number gain | See cases [RCV002292402] | Chr9:203861..131603223 [GRCh37] Chr9:9p24.3-q34.11 |
pathogenic |
NM_005893.3(CCIN):c.704T>C (p.Phe235Ser) | single nucleotide variant | not specified [RCV004302877] | Chr9:36170206 [GRCh38] Chr9:36170203 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.529C>T (p.Pro177Ser) | single nucleotide variant | not specified [RCV004200410] | Chr9:36170031 [GRCh38] Chr9:36170028 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.976G>T (p.Gly326Cys) | single nucleotide variant | not specified [RCV004194262] | Chr9:36170478 [GRCh38] Chr9:36170475 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.166C>T (p.Leu56Phe) | single nucleotide variant | not specified [RCV004214987] | Chr9:36169668 [GRCh38] Chr9:36169665 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.1177A>G (p.Ile393Val) | single nucleotide variant | not specified [RCV004148208] | Chr9:36170679 [GRCh38] Chr9:36170676 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.404G>A (p.Arg135His) | single nucleotide variant | not specified [RCV004224448] | Chr9:36169906 [GRCh38] Chr9:36169903 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.1106C>A (p.Thr369Asn) | single nucleotide variant | not specified [RCV004162598] | Chr9:36170608 [GRCh38] Chr9:36170605 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.112G>A (p.Val38Ile) | single nucleotide variant | not specified [RCV004212228] | Chr9:36169614 [GRCh38] Chr9:36169611 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.406T>C (p.Tyr136His) | single nucleotide variant | not specified [RCV004085334] | Chr9:36169908 [GRCh38] Chr9:36169905 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.17C>T (p.Thr6Met) | single nucleotide variant | not specified [RCV004205105] | Chr9:36169519 [GRCh38] Chr9:36169516 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.590C>T (p.Ala197Val) | single nucleotide variant | not specified [RCV004181936] | Chr9:36170092 [GRCh38] Chr9:36170089 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.388C>T (p.Arg130Cys) | single nucleotide variant | not specified [RCV004239466] | Chr9:36169890 [GRCh38] Chr9:36169887 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.1597G>A (p.Val533Ile) | single nucleotide variant | not specified [RCV004165139] | Chr9:36171099 [GRCh38] Chr9:36171096 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.623G>T (p.Arg208Leu) | single nucleotide variant | not specified [RCV004134672] | Chr9:36170125 [GRCh38] Chr9:36170122 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.1195C>T (p.Arg399Trp) | single nucleotide variant | not specified [RCV004075256] | Chr9:36170697 [GRCh38] Chr9:36170694 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.451G>A (p.Val151Ile) | single nucleotide variant | not specified [RCV004331523] | Chr9:36169953 [GRCh38] Chr9:36169950 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.1693C>T (p.Pro565Ser) | single nucleotide variant | not specified [RCV004340761] | Chr9:36171195 [GRCh38] Chr9:36171192 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.151C>T (p.Pro51Ser) | single nucleotide variant | not specified [RCV004344593] | Chr9:36169653 [GRCh38] Chr9:36169650 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.1313A>C (p.Tyr438Ser) | single nucleotide variant | not specified [RCV004365822] | Chr9:36170815 [GRCh38] Chr9:36170812 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.985A>G (p.Ile329Val) | single nucleotide variant | not specified [RCV004344215] | Chr9:36170487 [GRCh38] Chr9:36170484 [GRCh37] Chr9:9p13.3 |
uncertain significance |
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 | copy number gain | not provided [RCV003484765] | Chr9:1475882..38771831 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1 | copy number loss | not specified [RCV003986844] | Chr9:35440393..38787480 [GRCh37] Chr9:9p13.3-13.1 |
likely pathogenic |
NM_005893.3(CCIN):c.230T>C (p.Leu77Pro) | single nucleotide variant | Spermatogenic failure 91 [RCV004556888] | Chr9:36169732 [GRCh38] Chr9:36169729 [GRCh37] Chr9:9p13.3 |
pathogenic |
NM_005893.3(CCIN):c.1184G>A (p.Arg395His) | single nucleotide variant | not specified [RCV004430498] | Chr9:36170686 [GRCh38] Chr9:36170683 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.1196G>A (p.Arg399Gln) | single nucleotide variant | not specified [RCV004430499] | Chr9:36170698 [GRCh38] Chr9:36170695 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.608A>G (p.Asn203Ser) | single nucleotide variant | not specified [RCV004430504] | Chr9:36170110 [GRCh38] Chr9:36170107 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.884A>G (p.Asp295Gly) | single nucleotide variant | not specified [RCV004430507] | Chr9:36170386 [GRCh38] Chr9:36170383 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.554G>A (p.Arg185His) | single nucleotide variant | not specified [RCV004430502] | Chr9:36170056 [GRCh38] Chr9:36170053 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.598G>A (p.Ala200Thr) | single nucleotide variant | not specified [RCV004430503] | Chr9:36170100 [GRCh38] Chr9:36170097 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.850C>T (p.Leu284Phe) | single nucleotide variant | not specified [RCV004430506] | Chr9:36170352 [GRCh38] Chr9:36170349 [GRCh37] Chr9:9p13.3 |
uncertain significance |
GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1 | copy number loss | not provided [RCV004577467] | Chr9:35495055..39184042 [GRCh37] Chr9:9p13.3-13.1 |
pathogenic |
NM_005893.3(CCIN):c.1430A>G (p.Asn477Ser) | single nucleotide variant | not specified [RCV004430500] | Chr9:36170932 [GRCh38] Chr9:36170929 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.553C>T (p.Arg185Cys) | single nucleotide variant | not specified [RCV004430501] | Chr9:36170055 [GRCh38] Chr9:36170052 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.662A>G (p.Asn221Ser) | single nucleotide variant | not specified [RCV004430505] | Chr9:36170164 [GRCh38] Chr9:36170161 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NC_000009.11:g.(?_33436037)_(37436779_?)del | deletion | Spastic paraplegia [RCV004581844] | Chr9:33436037..37436779 [GRCh37] Chr9:9p13.3-13.2 |
pathogenic |
NC_000009.11:g.(?_32453279)_(36276941_?)dup | duplication | not provided [RCV004582073] | Chr9:32453279..36276941 [GRCh37] Chr9:9p21.1-13.3 |
uncertain significance |
NM_005893.3(CCIN):c.896C>T (p.Ala299Val) | single nucleotide variant | not specified [RCV004604745] | Chr9:36170398 [GRCh38] Chr9:36170395 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.634C>T (p.Arg212Trp) | single nucleotide variant | not specified [RCV004604744] | Chr9:36170136 [GRCh38] Chr9:36170133 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.1252G>A (p.Val418Met) | single nucleotide variant | not specified [RCV004604746] | Chr9:36170754 [GRCh38] Chr9:36170751 [GRCh37] Chr9:9p13.3 |
uncertain significance |
NM_005893.3(CCIN):c.1555A>G (p.Ile519Val) | single nucleotide variant | not specified [RCV004604747] | Chr9:36171057 [GRCh38] Chr9:36171054 [GRCh37] Chr9:9p13.3 |
uncertain significance |
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. |
RH71317 |
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CCIN_4526 |
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adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1167 | 2181 | 2276 | 2020 | 4282 | 1258 | 1846 | 4 | 331 | 1281 | 198 | 1950 | 5595 | 5526 | 39 | 3246 | 663 | 1524 | 1385 | 142 |
RefSeq Transcripts | NM_005893 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AA420997 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF333334 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK313763 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL158830 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC019251 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068269 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HM005688 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Z46967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000335119 ⟹ ENSP00000334996 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_005893 ⟹ NP_005884 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_005884 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH19251 | (Get FASTA) | NCBI Sequence Viewer |
AAK20829 | (Get FASTA) | NCBI Sequence Viewer | |
AEE61285 | (Get FASTA) | NCBI Sequence Viewer | |
BAG36501 | (Get FASTA) | NCBI Sequence Viewer | |
CAA87088 | (Get FASTA) | NCBI Sequence Viewer | |
EAW58313 | (Get FASTA) | NCBI Sequence Viewer | |
EAW58314 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000334996 | ||
ENSP00000334996.2 | |||
GenBank Protein | Q13939 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_005884 ⟸ NM_005893 |
- UniProtKB: | Q13939 (UniProtKB/Swiss-Prot), Q9BXG7 (UniProtKB/Swiss-Prot), Q8WWB2 (UniProtKB/TrEMBL), Q8WX35 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000334996 ⟸ ENST00000335119 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q13939-F1-model_v2 | AlphaFold | Q13939 | 1-588 | view protein structure |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:1568 | AgrOrtholog |
COSMIC | CCIN | COSMIC |
Ensembl Genes | ENSG00000185972 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000335119 | ENTREZGENE |
ENST00000335119.4 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.25.40.420 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
2.120.10.80 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Potassium Channel Kv1.1, Chain A | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000185972 | GTEx |
HGNC ID | HGNC:1568 | ENTREZGENE |
Human Proteome Map | CCIN | Human Proteome Map |
InterPro | BACK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
BTB-kelch_protein | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
BTB/POZ_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Calicin_BTB_POZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Kelch-typ_b-propeller | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Kelch_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SKP1/BTB/POZ_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:881 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 881 | ENTREZGENE |
OMIM | 603960 | OMIM |
PANTHER | KELCH-LIKE PROTEIN 32 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
LD33804P | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | BACK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
BTB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Kelch_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Kelch_6 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA26140 | PharmGKB |
PIRSF | Kelch-like_protein_gigaxonin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | BTB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | BACK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
BTB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Kelch | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF117281 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF54695 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | CALI_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
Q8WWB2 | ENTREZGENE, UniProtKB/TrEMBL | |
Q8WX35 | ENTREZGENE, UniProtKB/TrEMBL | |
Q9BXG7 | ENTREZGENE | |
UniProt Secondary | Q9BXG7 | UniProtKB/Swiss-Prot |