AutismKB 2.0

Annotation Detail for REPS1


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Basic Information Top
Gene Symbol:REPS1 ( RALBP1 )
Gene Full Name: RALBP1 associated Eps domain containing 1
Band: 6q24.1
Quick LinksEntrez ID:85021; OMIM: NA; Uniprot ID:REPS1_HUMAN; ENSEMBL ID: ENSG00000135597; HGNC ID: 15578
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body5 / 7076170
blastocyst3 / 6231948
fetus17 / 56401230
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult97 / 193912150
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor10 / 11424687
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor11 / 26384541
glioma5 / 10688346
head and neck tumor9 / 13630266
kidney tumor5 / 6895972
leukemia1 / 9584210
liver tumor7 / 9635972
lung tumor4 / 10312738
lymphoma8 / 71755111
non-neoplasia2 / 9725020
normal145 / 336030743
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor6 / 12494948
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites2 / 4001549
bladder0 / 297570 
blood1 / 1234788
bone4 / 7165555
bone marrow6 / 48801122
brain32 / 110098929
cervix0 / 481710 
connective tissue1 / 1492556
ear1 / 1621261
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye3 / 21105414
heart2 / 8962622
intestine14 / 23447259
kidney12 / 21177756
larynx0 / 241450 
liver12 / 20774357
lung20 / 33697459
lymph2 / 4427045
lymph node5 / 9161054
mammary gland14 / 15327191
mouth6 / 6705289
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland4 / 16585241
placenta8 / 28082528
prostate7 / 18934536
salivary gland0 / 201550 
skin10 / 21057447
spleen3 / 5395255
stomach2 / 9661920
testis17 / 33044251
thymus2 / 8113124
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus12 / 23287851
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6591_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala7.37 ± 0.24
Basal Forebrain7.29 ± 0.17
Basal Part of Pons7.58 ± 0.24
Cerebellar Cortex7.75 ± 0.18
Cerebellar Nuclei6.89 ± 0.32
Claustrum7.11 ± 0.42
Epithalamus7.44 ± 0.19
Frontal Lobe7.44 ± 0.3
Globus Pallidus7.12 ± 0.14
Hypothalamus7.6 ± 0.2
Insula7.52 ± 0.21
Limbic Lobe7.41 ± 0.41
Mesencephalon7.27 ± 0.35
Myelencephalon7.39 ± 0.33
Occipital Lobe7.5 ± 0.3
Parietal Lobe7.58 ± 0.32
Pontine Tegmentum7.41 ± 0.33
Striatum7.02 ± 0.33
Subthalamus7.34 ± 0.19
Temporal Lobe7.53 ± 0.28
Thalamus7.49 ± 0.18
White Matter6.9 ± 0.08
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Reps1CBCerebellum27.72
36.38
Reps1CTXCerebral cortex56.71
43.82
Reps1HIPHippocampal region47.03
81.45
Reps1HPFHippocampal formation48.2
63.11
Reps1HYHypothalamus66.33
59.04
Reps1LSXLateral septal complex23.02
16.76
Reps1MBMidbrain56.19
52.9
Reps1MYMedulla63.63
75
Reps1OLFOlfactory bulb57.12
49.4
Reps1PPons57.96
63.05
Reps1PALPallidum58.26
57.58
Reps1RHPRetrohippocampal region49.71
42.15
Reps1sAMYStriatum-like amygdalar nuclei57.6
45.41
Reps1STRStriatum29.56
22.99
Reps1STRdStriatum dorsal region19.78
14.55
Reps1STRvStriatum ventral region52.08
41.27
Reps1THThalamus67.92
61.05
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00390676 30 428 457 SSSSQTLTQFDSNIAPADPDTAIVHPVPIR Peptide Atlas
REPS1_HUMAN_411 10 411 420 IHMQEMELKR PRIDE

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018