FAM170B (family with sequence similarity 170 member B) - Rat Genome Database

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Gene: FAM170B (family with sequence similarity 170 member B) Homo sapiens
Analyze
Symbol: FAM170B
Name: family with sequence similarity 170 member B
RGD ID: 1346857
HGNC Page HGNC:19736
Description: Predicted to be involved in fertilization; positive regulation of acrosome reaction; and regulation of fertilization. Located in acrosomal vesicle.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C10orf73; family with sequence similarity 170, member B; putative protein FAM170B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381049,131,154 - 49,134,021 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1049,131,154 - 49,134,021 (-)EnsemblGRCh38hg38GRCh38
GRCh371050,339,199 - 50,342,066 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361050,009,205 - 50,012,083 (-)NCBINCBI36Build 36hg18NCBI36
Celera1043,924,786 - 43,927,652 (-)NCBICelera
Cytogenetic Map10q11.23NCBI
HuRef1044,603,939 - 44,606,805 (-)NCBIHuRef
CHM1_11050,621,005 - 50,623,871 (-)NCBICHM1_1
T2T-CHM13v2.01049,980,036 - 49,982,902 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Megacolon  (IAGP)
Schizophrenia  (IAGP)
References
Additional References at PubMed
PMID:12477932   PMID:21873635   PMID:26179146   PMID:32588889  


Genomics

Comparative Map Data
FAM170B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381049,131,154 - 49,134,021 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1049,131,154 - 49,134,021 (-)EnsemblGRCh38hg38GRCh38
GRCh371050,339,199 - 50,342,066 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361050,009,205 - 50,012,083 (-)NCBINCBI36Build 36hg18NCBI36
Celera1043,924,786 - 43,927,652 (-)NCBICelera
Cytogenetic Map10q11.23NCBI
HuRef1044,603,939 - 44,606,805 (-)NCBIHuRef
CHM1_11050,621,005 - 50,623,871 (-)NCBICHM1_1
T2T-CHM13v2.01049,980,036 - 49,982,902 (-)NCBIT2T-CHM13v2.0
Fam170b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391432,555,938 - 32,558,746 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1432,555,919 - 32,558,746 (+)EnsemblGRCm39 Ensembl
GRCm381432,833,962 - 32,836,789 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1432,833,962 - 32,836,789 (+)EnsemblGRCm38mm10GRCm38
MGSCv371433,647,148 - 33,649,975 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361431,663,413 - 31,665,881 (+)NCBIMGSCv36mm8
Celera1429,091,197 - 29,094,024 (+)NCBICelera
Cytogenetic Map14BNCBI
cM Map1419.4NCBI
Fam170b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8168,108,210 - 8,111,020 (+)NCBIGRCr8
mRatBN7.2168,101,914 - 8,104,724 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl168,101,914 - 8,104,705 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx168,120,706 - 8,123,516 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0169,265,605 - 9,268,415 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0168,113,290 - 8,116,100 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0169,074,044 - 9,076,885 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl169,074,033 - 9,076,865 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01611,038,456 - 11,041,249 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4168,359,344 - 8,361,599 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera167,100,834 - 7,103,682 (-)NCBICelera
Cytogenetic Map16p16NCBI
Fam170b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555561,072,692 - 1,077,761 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555561,072,826 - 1,075,332 (+)NCBIChiLan1.0ChiLan1.0
FAM170B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2861,398,023 - 61,400,890 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11061,403,342 - 61,406,209 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01045,110,158 - 45,113,019 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
FAM170B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1281,046,362 - 1,059,992 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha281,275,335 - 1,288,740 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0281,222,515 - 1,235,927 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1281,020,871 - 1,034,297 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0281,064,692 - 1,078,076 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0281,187,756 - 1,201,172 (-)NCBIUU_Cfam_GSD_1.0
Fam170b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721379,930,591 - 79,933,421 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367281,133,569 - 1,135,787 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367281,133,569 - 1,135,742 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM170B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1489,752,705 - 89,755,121 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11489,752,340 - 89,754,922 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21497,546,814 - 97,549,782 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAM170B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1942,667,503 - 42,671,443 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl942,668,682 - 42,670,983 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660482,429,382 - 2,432,251 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fam170b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624928821,167 - 823,610 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAM170B
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q11.22-11.23(chr10:48173631-49920071)x3 copy number gain See cases [RCV000051306] Chr10:48173631..49920071 [GRCh38]
Chr10:49381674..51028871 [GRCh37]
Chr10:49051680..50798123 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain See cases [RCV000051111] Chr10:45999930..49937908 [GRCh38]
Chr10:49201519..52415071 [GRCh37]
Chr10:48871525..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|See cases [RCV000052319] Chr10:45999930..49937908 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1 copy number loss See cases [RCV000052320] Chr10:45931517..50655311 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1 copy number loss See cases [RCV000052312] Chr10:45710242..50151325 [GRCh38]
Chr10:46205690..51911085 [GRCh37]
Chr10:45525696..51581091 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|See cases [RCV000052314] Chr10:45931517..49929364 [GRCh38]
Chr10:47006954..51636253 [GRCh37]
Chr10:46404919..51306259 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000052317] Chr10:45999930..49937908 [GRCh38]
Chr10:49390075..52518989 [GRCh37]
Chr10:49060081..52188995 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic|uncertain significance
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] Chr10:42335305..60284876 [GRCh38]
Chr10:42830753..62044634 [GRCh37]
Chr10:42150759..61714640 [NCBI36]
Chr10:10q11.21-21.2		 pathogenic
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 copy number gain See cases [RCV000134381] Chr10:42884294..52265317 [GRCh38]
Chr10:43379742..54025077 [GRCh37]
Chr10:42699748..53695083 [NCBI36]
Chr10:10q11.21-21.1		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000134388] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51594991 [GRCh37]
Chr10:45911175..51264997 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 copy number gain See cases [RCV000134846] Chr10:42395201..50877059 [GRCh38]
Chr10:42890649..52636819 [GRCh37]
Chr10:42210655..52306825 [NCBI36]
Chr10:10q11.21-11.23		 pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1 copy number loss See cases [RCV000136021] Chr10:45710248..50021141 [GRCh38]
Chr10:46205696..51724915 [GRCh37]
Chr10:45525702..51450907 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.23(chr10:49109413-49618870)x1 copy number loss See cases [RCV000137013] Chr10:49109413..49618870 [GRCh38]
Chr10:50317458..50826916 [GRCh37]
Chr10:49987464..50496922 [NCBI36]
Chr10:10q11.23		 uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:48084228-49929364)x3 copy number gain See cases [RCV000137480] Chr10:48084228..49929364 [GRCh38]
Chr10:49299274..51187662 [GRCh37]
Chr10:48962277..50857668 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1 copy number loss See cases [RCV000137750] Chr10:45810008..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45625462..51496232 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000139346] Chr10:45999930..49937908 [GRCh38]
Chr10:49002272..52458983 [GRCh37]
Chr10:48357728..52128989 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000139018] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51664079 [GRCh37]
Chr10:45911175..51334085 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000138899] Chr10:45931517..49929364 [GRCh38]
Chr10:49002272..51330432 [GRCh37]
Chr10:48395600..51032216 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1 copy number loss See cases [RCV000140650] Chr10:45788078..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45603532..51496232 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3 copy number gain See cases [RCV000142314] Chr10:45931517..50035809 [GRCh38]
Chr10:46966533..51795569 [GRCh37]
Chr10:46386539..51465575 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45686812-50151325)x3 copy number gain See cases [RCV000142981] Chr10:45686812..50151325 [GRCh38]
Chr10:46182260..51911085 [GRCh37]
Chr10:45502266..51581091 [NCBI36]
Chr10:10q11.22-11.23		 likely benign
GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1 copy number loss See cases [RCV000142776] Chr10:45710242..49929364 [GRCh38]
Chr10:46205690..51330432 [GRCh37]
Chr10:45525696..51265056 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49392896-52372011)x3 copy number gain See cases [RCV000449059] Chr10:49392896..52372011 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1 copy number loss See cases [RCV000240024] Chr10:46491169..51081560 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46242057-51595050)x3 copy number gain See cases [RCV000240599] Chr10:46242057..51595050 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NC_000010.10:g.43611191_61663279inv inversion Pediatric metastatic thyroid tumour [RCV000585841] Chr10:43611191..61663279 [GRCh37]
Chr10:10q11.21-21.2		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46224446-51594991)x1 copy number loss See cases [RCV000449125] Chr10:46224446..51594991 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46210750-51753095)x3 copy number gain See cases [RCV000447295] Chr10:46210750..51753095 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51822386)x1 copy number loss See cases [RCV000510320] Chr10:46966534..51822386 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51848637)x3 copy number gain See cases [RCV000511694] Chr10:46966534..51848637 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x1 copy number loss See cases [RCV000510805] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903756)x1 copy number loss See cases [RCV000511082] Chr10:46966533..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378357-51134640)x1 copy number loss See cases [RCV000510992] Chr10:49378357..51134640 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q11.22-11.23(chr10:49381707-52467180)x3 copy number gain See cases [RCV000512610] Chr10:49381707..52467180 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51891907)x3 copy number gain See cases [RCV000512156] Chr10:46966534..51891907 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51700837)x1 copy number loss not provided [RCV000683276] Chr10:46966533..51700837 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1 copy number loss not provided [RCV000683281] Chr10:46225364..51874356 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000683279] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51822386)x3 copy number gain not provided [RCV000683277] Chr10:46966533..51822386 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1 copy number loss not provided [RCV000683280] Chr10:46287821..51861565 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378356-51113033)x3 copy number gain not provided [RCV000683266] Chr10:49378356..51113033 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51874356)x1 copy number loss not provided [RCV000683278] Chr10:46966533..51874356 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:49378356-51250418)x1 copy number loss not provided [RCV000845659] Chr10:49378356..51250418 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47049547-51903662)x3 copy number gain not provided [RCV000737103] Chr10:47049547..51903662 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754119] Chr10:46157933..50098267 [GRCh38]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1 copy number loss not provided [RCV000762699] Chr10:49390457..60061643 [GRCh37]
Chr10:10q11.22-21.1		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471) copy number loss not provided [RCV000767657] Chr10:46544810..51743471 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48102606-50641752) copy number loss not provided [RCV000767599] Chr10:48102606..50641752 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1 copy number loss not provided [RCV001006319] Chr10:50250603..69256083 [GRCh37]
Chr10:10q11.23-21.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48252674-51830366)x3 copy number gain not provided [RCV000848290] Chr10:48252674..51830366 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3 copy number gain not provided [RCV000845945] Chr10:47148813..51626260 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51850064)x3 copy number gain not provided [RCV000847823] Chr10:46966533..51850064 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3 copy number gain not provided [RCV000848957] Chr10:46287086..51830366 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:49389565-51122608)x1 copy number loss not provided [RCV001006318] Chr10:49389565..51122608 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1 copy number loss not provided [RCV000847130] Chr10:46235357..51874163 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48106368-51250418)x1 copy number loss not provided [RCV000849733] Chr10:48106368..51250418 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x3 copy number gain not provided [RCV000846722] Chr10:49378356..52467181 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000847072] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3 copy number gain not provided [RCV001537904] Chr10:48301535..51807296 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1 copy number loss not provided [RCV001249414] Chr10:46321318..51595050 [GRCh37]
Chr10:10q11.22-11.23		 not provided
GRCh37/hg19 10q11.22-11.23(chr10:47132305-51627470)x1 copy number loss not provided [RCV001260090] Chr10:47132305..51627470 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48750425-51386904)x1 copy number loss not provided [RCV001260092] Chr10:48750425..51386904 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226) copy number loss 10q11.22q11.23 microdeletion including CHAT and SLC18A3 [RCV001255694] Chr10:46964973..51826226 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NC_000010.10:g.49033586_52417694del deletion Megacolon [RCV001290060] Chr10:49033586..52417694 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378356-51134640)x3 copy number gain not provided [RCV001260091] Chr10:49378356..51134640 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164) copy number loss Telangiectasia, hereditary hemorrhagic, type 5 [RCV002280655] Chr10:46576515..51680164 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1 copy number loss not provided [RCV001281356] Chr10:46966535..51874356 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49391938-51053159)x3 copy number gain not provided [RCV001270635] Chr10:49391938..51053159 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:49378357-51134640)x1 copy number loss not provided [RCV001833005] Chr10:49378357..51134640 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1 copy number loss See cases [RCV002293401] Chr10:46287821..51627470 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x1 copy number loss See cases [RCV002286348] Chr10:49378356..52467181 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3 copy number gain not provided [RCV002472545] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1 copy number loss not provided [RCV002472619] Chr10:48252675..51861565 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1 copy number loss not provided [RCV002474530] Chr10:46966534..51700837 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1 copy number loss not provided [RCV002474544] Chr10:46269493..51874356 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3 copy number gain not provided [RCV002511649] Chr10:46584432..51974628 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NM_001164484.2(FAM170B):c.168G>C (p.Glu56Asp) single nucleotide variant not specified [RCV004212913] Chr10:49132297 [GRCh38]
Chr10:50340342 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.499G>A (p.Glu167Lys) single nucleotide variant not specified [RCV004111294] Chr10:49131966 [GRCh38]
Chr10:50340011 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.734G>A (p.Arg245Gln) single nucleotide variant not specified [RCV004195222] Chr10:49131731 [GRCh38]
Chr10:50339776 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.434A>T (p.Lys145Met) single nucleotide variant not specified [RCV004128937] Chr10:49132031 [GRCh38]
Chr10:50340076 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.819G>C (p.Glu273Asp) single nucleotide variant not specified [RCV004208769] Chr10:49131646 [GRCh38]
Chr10:50339691 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.209A>G (p.Asp70Gly) single nucleotide variant not specified [RCV004234531] Chr10:49132256 [GRCh38]
Chr10:50340301 [GRCh37]
Chr10:10q11.23		 likely benign
NM_001164484.2(FAM170B):c.817G>A (p.Glu273Lys) single nucleotide variant not specified [RCV004231917] Chr10:49131648 [GRCh38]
Chr10:50339693 [GRCh37]
Chr10:10q11.23		 likely benign
NM_001164484.2(FAM170B):c.323C>T (p.Ala108Val) single nucleotide variant not specified [RCV004118476] Chr10:49132142 [GRCh38]
Chr10:50340187 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.679A>T (p.Ile227Phe) single nucleotide variant not specified [RCV004088006] Chr10:49131786 [GRCh38]
Chr10:50339831 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.749C>T (p.Ala250Val) single nucleotide variant not specified [RCV004085591] Chr10:49131716 [GRCh38]
Chr10:50339761 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.781C>A (p.Pro261Thr) single nucleotide variant not specified [RCV004085795] Chr10:49131684 [GRCh38]
Chr10:50339729 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.794G>A (p.Ser265Asn) single nucleotide variant not specified [RCV004253696] Chr10:49131671 [GRCh38]
Chr10:50339716 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.173G>A (p.Gly58Asp) single nucleotide variant not specified [RCV004259003] Chr10:49132292 [GRCh38]
Chr10:50340337 [GRCh37]
Chr10:10q11.23		 likely benign
NM_001164484.2(FAM170B):c.556T>C (p.Cys186Arg) single nucleotide variant not specified [RCV004251282] Chr10:49131909 [GRCh38]
Chr10:50339954 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.289G>A (p.Asp97Asn) single nucleotide variant not specified [RCV004274451] Chr10:49132176 [GRCh38]
Chr10:50340221 [GRCh37]
Chr10:10q11.23		 uncertain significance
NC_000010.11:g.45704708_(49974954_50015268)del deletion 10q11.22q11.23 deletion syndrome [RCV003221322] Chr10:45704708..49974954 [GRCh38]
Chr10:10q11.22-11.23		 likely pathogenic
NM_001164484.2(FAM170B):c.619G>A (p.Val207Met) single nucleotide variant not specified [RCV004269981] Chr10:49131846 [GRCh38]
Chr10:50339891 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_001164484.2(FAM170B):c.124A>G (p.Arg42Gly) single nucleotide variant not specified [RCV004304794] Chr10:49132341 [GRCh38]
Chr10:50340386 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1 copy number loss See cases [RCV003329537] Chr10:46284269..51870080 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NM_001164484.2(FAM170B):c.560T>G (p.Leu187Arg) single nucleotide variant not specified [RCV004344632] Chr10:49131905 [GRCh38]
Chr10:50339950 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.19G>T (p.Asp7Tyr) single nucleotide variant not specified [RCV004335962] Chr10:49133900 [GRCh38]
Chr10:50341945 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.337G>A (p.Val113Met) single nucleotide variant not specified [RCV004341364] Chr10:49132128 [GRCh38]
Chr10:50340173 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.516C>G (p.Asn172Lys) single nucleotide variant not specified [RCV004361964] Chr10:49131949 [GRCh38]
Chr10:50339994 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3 copy number gain not provided [RCV003484799] Chr10:48349961..51817663 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3 copy number gain See cases [RCV004442779] Chr10:46975077..51089085 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000) copy number loss Pulmonary arterial hypertension [RCV004555161] Chr10:45795500..50134000 [GRCh38]
Chr10:10q11.22-11.23		 likely pathogenic
NC_000010.10:g.(?_49383876)_(52383915_?)del deletion Cockayne syndrome type 2 [RCV003885341] Chr10:49383876..52383915 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NM_001164484.2(FAM170B):c.803C>T (p.Ser268Phe) single nucleotide variant not specified [RCV004380934] Chr10:49131662 [GRCh38]
Chr10:50339707 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.29G>A (p.Gly10Glu) single nucleotide variant not specified [RCV004380931] Chr10:49133890 [GRCh38]
Chr10:50341935 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.137C>T (p.Ser46Phe) single nucleotide variant not specified [RCV004380929] Chr10:49132328 [GRCh38]
Chr10:50340373 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.392C>T (p.Pro131Leu) single nucleotide variant not specified [RCV004380932] Chr10:49132073 [GRCh38]
Chr10:50340118 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.521G>A (p.Ser174Asn) single nucleotide variant not specified [RCV004380933] Chr10:49131944 [GRCh38]
Chr10:50339989 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.210C>A (p.Asp70Glu) single nucleotide variant not specified [RCV004380930] Chr10:49132255 [GRCh38]
Chr10:50340300 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.193G>A (p.Asp65Asn) single nucleotide variant not specified [RCV004625352] Chr10:49132272 [GRCh38]
Chr10:50340317 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.800G>A (p.Cys267Tyr) single nucleotide variant not specified [RCV004625353] Chr10:49131665 [GRCh38]
Chr10:50339710 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.214A>G (p.Ser72Gly) single nucleotide variant not specified [RCV004625354] Chr10:49132251 [GRCh38]
Chr10:50340296 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.569T>C (p.Leu190Pro) single nucleotide variant not specified [RCV004625355] Chr10:49131896 [GRCh38]
Chr10:50339941 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.587G>C (p.Trp196Ser) single nucleotide variant not specified [RCV004625356] Chr10:49131878 [GRCh38]
Chr10:50339923 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.841G>A (p.Glu281Lys) single nucleotide variant not specified [RCV004625357] Chr10:49131624 [GRCh38]
Chr10:50339669 [GRCh37]
Chr10:10q11.23		 likely benign
GRCh37/hg19 10q11.22-11.23(chr10:48301644-51717529)x1 copy number loss not provided [RCV004819828] Chr10:48301644..51717529 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287822-51821987)x3 copy number gain not provided [RCV004819558] Chr10:46287822..51821987 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:48117190-51365069)x1 copy number loss not provided [RCV004819827] Chr10:48117190..51365069 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NM_001164484.2(FAM170B):c.332C>T (p.Thr111Met) single nucleotide variant not specified [RCV004920959] Chr10:49132133 [GRCh38]
Chr10:50340178 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.818A>C (p.Glu273Ala) single nucleotide variant not specified [RCV004920960] Chr10:49131647 [GRCh38]
Chr10:50339692 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.73C>T (p.Pro25Ser) single nucleotide variant not specified [RCV004920961] Chr10:49133846 [GRCh38]
Chr10:50341891 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.145C>T (p.Pro49Ser) single nucleotide variant not specified [RCV004920962] Chr10:49132320 [GRCh38]
Chr10:50340365 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001164484.2(FAM170B):c.119T>C (p.Ile40Thr) single nucleotide variant not specified [RCV004920963] Chr10:49132346 [GRCh38]
Chr10:50340391 [GRCh37]
Chr10:10q11.23		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:308
Count of miRNA genes:257
Interacting mature miRNAs:274
Transcripts:ENST00000311787
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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.


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
739 1038 1005 787 1593 526 903 145 1173 85 779 2944 3070 1 1493 329 845 709 61

Sequence


Ensembl Acc Id: ENST00000311787   ⟹   ENSP00000308292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1049,131,154 - 49,134,021 (-)Ensembl
RefSeq Acc Id: NM_001164484   ⟹   NP_001157956
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381049,131,154 - 49,134,021 (-)NCBI
GRCh371050,339,199 - 50,342,065 (-)RGD
Celera1043,924,786 - 43,927,652 (-)RGD
HuRef1044,603,939 - 44,606,805 (-)ENTREZGENE
CHM1_11050,621,005 - 50,623,871 (-)NCBI
T2T-CHM13v2.01049,980,036 - 49,982,902 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001157956 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A6NMN3 (Get FASTA)   NCBI Sequence Viewer  
  AAH29839 (Get FASTA)   NCBI Sequence Viewer  
  AAH47597 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000308292
  ENSP00000308292.6
RefSeq Acc Id: NP_001157956   ⟸   NM_001164484
- UniProtKB: Q8N6K8 (UniProtKB/Swiss-Prot),   Q86WY6 (UniProtKB/Swiss-Prot),   A6NMN3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000308292   ⟸   ENST00000311787

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NMN3-F1-model_v2 AlphaFold A6NMN3 1-283 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19736 AgrOrtholog
COSMIC FAM170B COSMIC
Ensembl Genes ENSG00000172538 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000311787 ENTREZGENE
  ENST00000311787.6 UniProtKB/Swiss-Prot
GTEx ENSG00000172538 GTEx
HGNC ID HGNC:19736 ENTREZGENE
Human Proteome Map FAM170B Human Proteome Map
InterPro Spt46-like UniProtKB/Swiss-Prot
KEGG Report hsa:170370 UniProtKB/Swiss-Prot
NCBI Gene FAM170B ENTREZGENE
PANTHER PTHR33517 UniProtKB/Swiss-Prot
  PTHR33517:SF2 UniProtKB/Swiss-Prot
Pfam Spt46 UniProtKB/Swiss-Prot
PharmGKB PA162387168 PharmGKB
UniProt A6NMN3 ENTREZGENE, UniProtKB/Swiss-Prot
  Q86WY6 ENTREZGENE
  Q8N6K8 ENTREZGENE
UniProt Secondary Q86WY6 UniProtKB/Swiss-Prot
  Q8N6K8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM170B  family with sequence similarity 170 member B    family with sequence similarity 170, member B  Symbol and/or name change 5135510 APPROVED